#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	255	0	0	0	1	0	5	255				
SYNE1	23345	broad.mit.edu	37	6	152763329	152763329	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:152763329C>T	ENST00000367255.5	-	31	4490	c.3889G>A	c.(3889-3891)Gcg>Acg	p.A1297T	SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1297					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCGCCTGCGCGATCTGCTGC	0.557										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3889-3891)Gcg>Acg		spectrin repeat containing, nuclear envelope 1							79.0	70.0	73.0					6																	152763329		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763329C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3889G>A	6.37:g.152763329C>T	ENSP00000356224:p.Ala1297Thr	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T	p.A1297T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4490	-		Ovarian(120;0.0955)	1297					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3889G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	c	0.960	-0.703603	0.03255	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87334	0.75;0.75;0.65;0.75;0.85;-2.15;-2.24;-2.24	5.41	2.71	0.32032	.	1.087730	0.07067	N	0.834808	T	0.59432	0.2193	L	0.28274	0.84	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.001;0.002;0.003;0.001;0.002	B;B;B;B;B;B	0.06405	0.002;0.0;0.001;0.002;0.0;0.002	T	0.47381	-0.9122	10	0.19147	T	0.46	.	5.2817	0.15678	0.1385:0.5754:0.0:0.2861	.	1280;1297;1287;1297;1297;1304	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	T	1297;1304;1297;1304;1363;1297;1287;1297	ENSP00000356224:A1297T;ENSP00000396024:A1304T;ENSP00000265368:A1297T;ENSP00000390975:A1304T;ENSP00000341887:A1363T;ENSP00000356222:A1297T;ENSP00000356217:A1287T;ENSP00000414510:A1297T	ENSP00000265368:A1297T	A	-	1	0	SYNE1	152805022	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.645000	0.24782	0.367000	0.24454	-0.127000	0.14921	GCG		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		48	272	0	0	0	1	0	48	272				
BLZF1	8548	broad.mit.edu	37	1	169349763	169349763	+	Missense_Mutation	SNP	G	G	A	rs562436533		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:169349763G>A	ENST00000367808.3	+	5	1136	c.713G>A	c.(712-714)cGt>cAt	p.R238H	BLZF1_ENST00000329281.2_Missense_Mutation_p.R238H			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	238					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GCTTTACAGCGTCAAAACCGT	0.383													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17714	0.0		0.0	False		,,,				2504	0.0					ENST00000367808.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(712-714)cGt>cAt		basic leucine zipper nuclear factor 1							132.0	111.0	118.0					1																	169349763		2203	4300	6503	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169349763G>A	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.713G>A	1.37:g.169349763G>A	ENSP00000356782:p.Arg238His					BLZF1_ENST00000329281.2_Missense_Mutation_p.R238H	p.R238H			Q9H2G9	GO45_HUMAN			5	1136	+	all_hematologic(923;0.208)		238					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.713G>A	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828201	0.71143	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	T;T;T	0.13307	2.6;2.6;2.6	5.52	4.59	0.56863	.	0.116880	0.53938	D	0.000046	T	0.07369	0.0186	M	0.61703	1.905	0.46981	D	0.999278	B;B	0.32160	0.358;0.358	B;B	0.23018	0.043;0.043	T	0.05937	-1.0855	9	0.51188	T	0.08	-24.7466	14.7107	0.69229	0.0707:0.0:0.9293:0.0	.	238;238	A8K6R0;Q9H2G9	.;GO45_HUMAN	H	238	ENSP00000356782:R238H;ENSP00000327541:R238H;ENSP00000404408:R238H	ENSP00000327541:R238H	R	+	2	0	BLZF1	167616387	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.162000	0.71874	1.293000	0.44690	0.637000	0.83480	CGT		0.383	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		5	476	0	0	0	1	0	5	476				
ASPM	259266	broad.mit.edu	37	1	197070385	197070385	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:197070385T>C	ENST00000367409.4	-	18	8252	c.7996A>G	c.(7996-7998)Acc>Gcc	p.T2666A	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2666	IQ 29. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTGCTTGGGTACGCACTGCA	0.368																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(7996-7998)Acc>Gcc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							62.0	56.0	58.0					1																	197070385		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070385T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7996A>G	1.37:g.197070385T>C	ENSP00000356379:p.Thr2666Ala					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.T2666A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	8252	-			2666			IQ 29.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7996A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297929	0.23650	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71461	-0.57	4.87	2.43	0.29744	.	0.323751	0.26478	N	0.024158	T	0.67859	0.2938	L	0.38838	1.175	0.21473	N	0.999675	P;P	0.51933	0.949;0.587	D;B	0.65987	0.94;0.241	T	0.55289	-0.8164	10	0.22109	T	0.4	.	1.899	0.03264	0.1319:0.1509:0.1367:0.5805	.	652;2666	E7EQ84;Q8IZT6	.;ASPM_HUMAN	A	2666;652	ENSP00000356379:T2666A	ENSP00000356376:T652A	T	-	1	0	ASPM	195337008	0.001000	0.12720	0.197000	0.23402	0.500000	0.33767	0.732000	0.26072	0.259000	0.21709	0.455000	0.32223	ACC		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		108	247	0	0	0	1	0	108	247				
REV3L	5980	broad.mit.edu	37	6	111693843	111693843	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:111693843C>G	ENST00000358835.3	-	14	6169	c.5715G>C	c.(5713-5715)caG>caC	p.Q1905H	REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000435970.1_Missense_Mutation_p.Q1827H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1905					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAATGGTTCCTGGTAAATAG	0.383								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5479-5481)caG>caC	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							108.0	114.0	112.0					6																	111693843		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693843C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5715G>C	6.37:g.111693843C>G	ENSP00000351697:p.Gln1905His					REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000358835.3_Missense_Mutation_p.Q1905H	p.Q1827H			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6297	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1905					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5481G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209683	0.39003	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.03	1.84	0.25277	Ribonuclease H-like (1);	0.147380	0.49916	D	0.000123	T	0.60637	0.2284	M	0.81341	2.54	0.35196	D	0.773874	D	0.89917	1.0	D	0.83275	0.996	T	0.66069	-0.6015	10	0.87932	D	0	-2.7769	9.4873	0.38937	0.0:0.5989:0.0:0.4011	.	1905	O60673	DPOLZ_HUMAN	H	1905;1905;1905;1827	ENSP00000357792:Q1905H;ENSP00000357795:Q1905H;ENSP00000351697:Q1905H;ENSP00000402003:Q1827H	ENSP00000351697:Q1905H	Q	-	3	2	REV3L	111800536	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	0.348000	0.20031	0.459000	0.27016	-0.140000	0.14226	CAG		0.383	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		68	486	0	0	0	1	0	68	486				
DMD	1756	broad.mit.edu	37	X	32503058	32503058	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:32503058G>A	ENST00000357033.4	-	21	2987	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A	DMD_ENST00000378677.2_Silent_p.A923A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	927					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTCTCTCTGGCCTGCACAT	0.408																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2779-2781)gcC>gcT		dystrophin							120.0	103.0	108.0					X																	32503058		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32503058G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2781C>T	X.37:g.32503058G>A						DMD_ENST00000378677.2_Silent_p.A923A	p.A927A	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			21	2987	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	927					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.2781C>T	CCDS14233.1																																																																																				0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		44	211	0	0	0	1	0	44	211				
UBXN11	91544	broad.mit.edu	37	1	26608892	26608892	+	Silent	SNP	G	G	A	rs367932248|rs200210107		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:26608892G>A	ENST00000374222.1	-	16	1925	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	UBXN11_ENST00000314675.7_Silent_p.P367P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000374217.2_Silent_p.P454P			Q5T124	UBX11_HUMAN	UBX domain protein 11	487	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gaccgggaccgggacagggac	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		11883	0.0		0.001	False		,,,				2504	0.0					ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1099-1101)ccC>ccT		UBX domain protein 11		G	,,	1,3703		0,1,1851	49.0	60.0	56.0		1101,1362,1461	0.6	0.0	1		56	4,8126		0,4,4061	no	coding-synonymous,coding-synonymous,coding-synonymous	UBXN11	NM_001077262.1,NM_145345.2,NM_183008.2	,,	0,5,5912	AA,AG,GG		0.0492,0.027,0.0423	,,	367/401,454/488,487/521	26608892	5,11829	1852	4065	5917	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26608892G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1461C>T	1.37:g.26608892G>A						UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000374223.1_Silent_p.P244P	p.P367P	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1180	-			487					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.1101C>T	CCDS41288.1																																																																																				0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		6	327	0	0	0	1	0	6	327				
MUC17	140453	broad.mit.edu	37	7	100687041	100687041	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100687041C>T	ENST00000306151.4	+	3	12408	c.12344C>T	c.(12343-12345)aCg>aTg	p.T4115M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4115					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGTCCCCACGAATACTACA	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12343-12345)aCg>aTg		mucin 17, cell surface associated							135.0	141.0	139.0					7																	100687041		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100687041C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12344C>T	7.37:g.100687041C>T	ENSP00000302716:p.Thr4115Met						p.T4115M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	12408	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4115					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12344C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.875680	0.00537	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	1.06	-2.11	0.07187	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	P	0.35793	0.521	B	0.23419	0.046	T	0.35450	-0.9788	9	0.45353	T	0.12	.	4.3146	0.10986	0.0:0.4556:0.3533:0.1911	.	4115	Q685J3	MUC17_HUMAN	M	4115	ENSP00000302716:T4115M	ENSP00000302716:T4115M	T	+	2	0	MUC17	100473761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.644000	0.02002	-3.376000	0.00176	-3.452000	0.00036	ACG		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		42	258	0	0	0	1	0	42	258				
MUC16	94025	broad.mit.edu	37	19	9063069	9063069	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9063069G>A	ENST00000397910.4	-	3	24580	c.24377C>T	c.(24376-24378)aCc>aTc	p.T8126I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8128	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGCTGCTGGTCTTTCTCAG	0.527																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24376-24378)aCc>aTc		mucin 16, cell surface associated							129.0	125.0	126.0					19																	9063069		2006	4173	6179	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063069G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24377C>T	19.37:g.9063069G>A	ENSP00000381008:p.Thr8126Ile						p.T8126I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24580	-			8128			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24377C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.227	0.227444	0.09916	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.09	2.02	0.26589	.	.	.	.	.	T	0.02767	0.0083	L	0.29908	0.895	.	.	.	P	0.36837	0.571	B	0.37047	0.24	T	0.28073	-1.0055	8	0.87932	D	0	.	7.2133	0.25945	0.0:0.0:0.7105:0.2894	.	8126	B5ME49	.	I	8126	ENSP00000381008:T8126I	ENSP00000381008:T8126I	T	-	2	0	MUC16	8924069	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.336000	0.07863	0.827000	0.34685	0.508000	0.49915	ACC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		75	322	0	0	0	1	0	75	322				
TGFBR2	7048	broad.mit.edu	37	3	30732964	30732964	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:30732964A>T	ENST00000295754.5	+	7	1959	c.1577A>T	c.(1576-1578)gAg>gTg	p.E526V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> Q (in esophageal cancer). {ECO:0000269|PubMed:10789724}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACGACCCAGAGGCCCGTCTC	0.597																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1576-1578)gAg>gTg		transforming growth factor, beta receptor II (70/80kDa)							71.0	65.0	67.0					3																	30732964		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732964A>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1577A>T	3.37:g.30732964A>T	ENSP00000295754:p.Glu526Val					TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V	p.E526V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1959	+			526		E -> Q (in esophageal cancer).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1577A>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.007072	0.93287	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.66995	-0.24;-0.24	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83188	-0.0085	10	0.72032	D	0.01	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	526;551	P37173;D2JYI1	TGFR2_HUMAN;.	V	526;551;356	ENSP00000295754:E526V;ENSP00000351905:E551V	ENSP00000295754:E526V	E	+	2	0	TGFBR2	30707968	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	GAG		0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			62	226	0	0	0	1	0	62	226				
KCNH6	81033	broad.mit.edu	37	17	61611489	61611489	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:61611489C>T	ENST00000583023.1	+	5	929	c.918C>T	c.(916-918)atC>atT	p.I306I	KCNH6_ENST00000456941.2_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000581784.1_Silent_p.I306I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	306					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGATCTCATCGTGGACATCA	0.597																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(916-918)atC>atT		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						227.0	194.0	205.0					17																	61611489		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611489C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.918C>T	17.37:g.61611489C>T						KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I	p.I306I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			5	929	+			306					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.918C>T	CCDS11638.1																																																																																				0.597	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		114	455	0	0	0	1	0	114	455				
ZNF382	84911	broad.mit.edu	37	19	37117303	37117303	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:37117303G>A	ENST00000292928.2	+	5	617	c.504G>A	c.(502-504)gaG>gaA	p.E168E	ZNF382_ENST00000423582.1_Silent_p.E119E|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Silent_p.E167E|ZNF382_ENST00000435416.1_Silent_p.E167E	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	168	Represses transcription. {ECO:0000250}.		E -> G (in dbSNP:rs3108171). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGGATGGGAGAAATCACTCC	0.358																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(499-501)gaG>gaA		zinc finger protein 382							104.0	112.0	109.0					19																	37117303		2201	4300	6501	SO:0001819	synonymous_variant	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117303G>A	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.504G>A	19.37:g.37117303G>A						ZNF382_ENST00000292928.2_Silent_p.E168E|ZNF382_ENST00000423582.1_Silent_p.E119E|ZNF382_ENST00000439428.1_Silent_p.E167E	p.E167E			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	1996	+	Esophageal squamous(110;0.198)		168			Represses transcription (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	SNP	ENST00000292928.2	37	c.501G>A	CCDS33004.1																																																																																				0.358	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		26	1270	0	0	0	1	0	26	1270				
CCDC150	284992	broad.mit.edu	37	2	197521440	197521440	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:197521440C>T	ENST00000389175.4	+	3	395	c.260C>T	c.(259-261)gCa>gTa	p.A87V	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	87										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAATTTGTGCAGGAAAAACA	0.418																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(259-261)gCa>gTa		coiled-coil domain containing 150							90.0	86.0	88.0					2																	197521440		1824	4083	5907	SO:0001583	missense	284992							g.chr2:197521440C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.260C>T	2.37:g.197521440C>T	ENSP00000373827:p.Ala87Val					CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_5'UTR	p.A87V	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			3	395	+			87					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.260C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405270	0.25378	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.30182	1.54	5.03	4.08	0.47627	.	1.321280	0.05387	N	0.538316	T	0.16471	0.0396	N	0.04508	-0.205	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.002	T	0.19877	-1.0292	10	0.29301	T	0.29	-0.076	7.9712	0.30127	0.0:0.7363:0.1675:0.0962	.	87;87	Q8NCX0;F5H6M2	CC150_HUMAN;.	V	87	ENSP00000373827:A87V	ENSP00000373827:A87V	A	+	2	0	CCDC150	197229685	0.021000	0.18746	0.998000	0.56505	0.722000	0.41435	-0.006000	0.12833	2.632000	0.89209	0.655000	0.94253	GCA		0.418	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		4	223	0	0	0	1	0	4	223				
ARSF	416	broad.mit.edu	37	X	3002668	3002668	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:3002668G>T	ENST00000381127.1	+	6	1012	c.791G>T	c.(790-792)gGa>gTa	p.G264V	ARSF_ENST00000537104.1_Missense_Mutation_p.G264V|ARSF_ENST00000359361.2_Missense_Mutation_p.G264V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	264					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACGAGCTGGATCCATTATG	0.448																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(790-792)gGa>gTa		arylsulfatase F							58.0	51.0	53.0					X																	3002668		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002668G>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.791G>T	X.37:g.3002668G>T	ENSP00000370519:p.Gly264Val					ARSF_ENST00000359361.2_Missense_Mutation_p.G264V|ARSF_ENST00000537104.1_Missense_Mutation_p.G264V	p.G264V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	1012	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	264					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.791G>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	4.411	0.075973	0.08485	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98474	-4.95;-4.95;-4.95	2.99	2.99	0.34606	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.279575	0.32987	U	0.005404	D	0.95401	0.8507	N	0.11870	0.19	0.09310	N	1	B	0.22851	0.076	B	0.40329	0.326	D	0.91487	0.5209	10	0.62326	D	0.03	.	9.713	0.40256	0.0:0.4614:0.5386:0.0	.	264	P54793	ARSF_HUMAN	V	264	ENSP00000370519:G264V;ENSP00000445594:G264V;ENSP00000352319:G264V	ENSP00000352319:G264V	G	+	2	0	ARSF	3012668	0.001000	0.12720	0.292000	0.24919	0.582000	0.36321	0.559000	0.23485	1.099000	0.41499	0.534000	0.68092	GGA		0.448	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			44	251	1	0	7.62715e-32	1	8.38356e-32	44	251				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			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.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	192	0	0	0	1	0	4	192				
PCDH17	27253	broad.mit.edu	37	13	58208067	58208067	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:58208067C>G	ENST00000377918.3	+	1	1413	c.1387C>G	c.(1387-1389)Cta>Gta	p.L463V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	463	Cadherin 4. {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)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATCAAGATTCTAGACGAGAA	0.602																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1387-1389)Cta>Gta		protocadherin 17							53.0	44.0	47.0					13																	58208067		2202	4300	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208067C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1387C>G	13.37:g.58208067C>G	ENSP00000367151:p.Leu463Val						p.L463V	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1413	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	463			Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1387C>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824594	0.50739	.	.	ENSG00000118946	ENST00000377918	T	0.55588	0.51	5.58	4.74	0.60224	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	L	0.45470	1.425	0.48452	D	0.999652	P;P	0.50819	0.925;0.939	P;P	0.57720	0.734;0.826	T	0.56637	-0.7946	9	.	.	.	.	10.6669	0.45736	0.0:0.854:0.0:0.146	.	463;463	O14917-2;O14917	.;PCD17_HUMAN	V	463	ENSP00000367151:L463V	.	L	+	1	2	PCDH17	57106068	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	2.537000	0.45702	1.378000	0.46305	0.561000	0.74099	CTA		0.602	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	112	0	0	0	1	0	4	112				
IGHV3-9	28451	broad.mit.edu	37	14	106552400	106552400	+	RNA	SNP	G	G	A	rs587692328	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr14:106552400G>A	ENST00000390600.2	-	0	318									immunoglobulin heavy variable 3-9																		CACAGAGTCCGCATAGCCTAT	0.522																																						ENST00000390600.2																			0																				125.0	97.0	107.0					14																	106552400		1850	3445	5295			0							g.chr14:106552400G>A	M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552400G>A														0	318	-									RNA	SNP	ENST00000390600.2	37																																																																																						0.522	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325679.1	NG_001019		7	836	0	0	0	1	0	7	836				
PRPS1L1	221823	broad.mit.edu	37	7	18067282	18067282	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:18067282C>T	ENST00000506618.2	-	1	204	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	42					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCAATTTCCACGCAGGTCTCC	0.502																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(124-126)Gtg>Atg		phosphoribosyl pyrophosphate synthetase 1-like 1							269.0	264.0	266.0					7																	18067282		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067282C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.124G>A	7.37:g.18067282C>T	ENSP00000424595:p.Val42Met						p.V42M	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	204	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		42					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.124G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066850	0.76301	.	.	ENSG00000229937	ENST00000506618	D	0.93019	-3.15	4.27	4.27	0.50696	.	.	.	.	.	D	0.97629	0.9223	H	0.96547	3.84	.	.	.	D	0.89917	1.0	D	0.78314	0.991	D	0.98556	1.0639	8	0.87932	D	0	.	14.5862	0.68326	0.0:1.0:0.0:0.0	.	42	P21108	PRPS3_HUMAN	M	42	ENSP00000424595:V42M	ENSP00000424595:V42M	V	-	1	0	PRPS1L1	18033807	1.000000	0.71417	0.965000	0.40720	0.909000	0.53808	5.366000	0.66122	2.375000	0.81037	0.555000	0.69702	GTG		0.502	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		12	950	0	0	0	1	0	12	950				
ZNF558	148156	broad.mit.edu	37	19	8922295	8922295	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:8922295G>A	ENST00000601372.1	-	10	1582	c.871C>T	c.(871-873)Cct>Tct	p.P291S	ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S|ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S			Q96NG5	ZN558_HUMAN	zinc finger protein 558	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CATTCATAAGGTTTCTCCCCT	0.448																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(871-873)Cct>Tct		zinc finger protein 558							125.0	119.0	121.0					19																	8922295		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922295G>A	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.871C>T	19.37:g.8922295G>A	ENSP00000471277:p.Pro291Ser					ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S|ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S	p.P291S			Q96NG5	ZN558_HUMAN			10	1582	-			291					A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.871C>T	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458995	0.84317	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.16743	2.32;2.32	5.07	5.07	0.68467	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000595	T	0.38532	0.1044	L	0.60904	1.88	0.47214	D	0.999359	D	0.89917	1.0	D	0.72338	0.977	T	0.09487	-1.0672	10	0.87932	D	0	-15.4151	15.9729	0.80034	0.0:0.0:1.0:0.0	.	291	Q96NG5	ZN558_HUMAN	S	291;220	ENSP00000301475:P291S;ENSP00000410703:P220S	ENSP00000301475:P291S	P	-	1	0	ZNF558	8783295	1.000000	0.71417	0.954000	0.39281	0.979000	0.70002	8.818000	0.91991	2.636000	0.89361	0.591000	0.81541	CCT		0.448	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		11	516	0	0	0	1	0	11	516				
LDB2	9079	broad.mit.edu	37	4	16504390	16504390	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:16504390C>T	ENST00000304523.5	-	8	1321	c.998G>A	c.(997-999)gGc>gAc	p.G333D	LDB2_ENST00000515064.1_Missense_Mutation_p.G331D|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	333	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTCGTCCATGCCGTTGGCCGC	0.522																																						ENST00000304523.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(997-999)gGc>gAc		LIM domain binding 2							239.0	211.0	221.0					4																	16504390		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16504390C>T	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.998G>A	4.37:g.16504390C>T	ENSP00000306772:p.Gly333Asp					LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.G331D	p.G333D	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN			8	1321	-			333			LIM-binding domain (LID) (By similarity).		O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.998G>A	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.144434|4.144434	0.77888|0.77888	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000304523	.|T;T	.|0.23348	.|1.91;1.91	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.52933|0.52933	0.1765|0.1765	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.995;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.992;0.945;0.998;0.999	T|T	0.49579|0.49579	-0.8925|-0.8925	5|10	.|0.41790	.|T	.|0.15	-15.8004|-15.8004	18.3199|18.3199	0.90234|0.90234	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|297;331;333;307	.|B7Z6D0;G5E9Y7;O43679;O43679-3	.|.;.;LDB2_HUMAN;.	T|D	254|331;333	.|ENSP00000422552:G331D;ENSP00000306772:G333D	.|ENSP00000306772:G333D	A|G	-|-	1|2	0|0	LDB2|LDB2	16113488|16113488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.818000|7.818000	0.86416|0.86416	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.522	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			6	607	0	0	0	1	0	6	607				
OR7D4	125958	broad.mit.edu	37	19	9325236	9325236	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9325236G>A	ENST00000308682.2	-	1	306	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCCCATGTAGGAGATGTCTTT	0.488																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(277-279)tCc>tTc		olfactory receptor, family 7, subfamily D, member 4							82.0	73.0	76.0					19																	9325236		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325236G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.278C>T	19.37:g.9325236G>A	ENSP00000310488:p.Ser93Phe						p.S93F	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	306	-			93					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.278C>T	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350572	0.24512	.	.	ENSG00000174667	ENST00000308682	T	0.00745	5.75	3.86	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.344022	0.25397	N	0.030975	T	0.04003	0.0112	M	0.94142	3.5	0.09310	N	1	P	0.52316	0.952	P	0.55667	0.781	T	0.07158	-1.0787	10	0.87932	D	0	.	8.2914	0.31960	0.0976:0.1631:0.7393:0.0	.	93	Q8NG98	OR7D4_HUMAN	F	93	ENSP00000310488:S93F	ENSP00000310488:S93F	S	-	2	0	OR7D4	9186236	0.075000	0.21258	0.020000	0.16555	0.086000	0.17979	2.488000	0.45276	0.951000	0.37770	0.436000	0.28706	TCC		0.488	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			68	255	0	0	0	1	0	68	255				
ADNP2	22850	broad.mit.edu	37	18	77896690	77896690	+	Nonstop_Mutation	SNP	T	T	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:77896690T>A	ENST00000262198.4	+	4	3849	c.3394T>A	c.(3394-3396)Taa>Aaa	p.*1132K		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	0					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATATGAACCATAAAACTTGCA	0.303																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3394-3396)Taa>Aaa		ADNP homeobox 2							9.0	9.0	9.0					18																	77896690		1999	4153	6152	SO:0001578	stop_lost	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896690T>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3394T>A	18.37:g.77896690T>A	ENSP00000262198:p.*1132Lysext*12						p.*1132K	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3849	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	0					A8K951|O94943|Q9H9P3	Nonstop_Mutation	SNP	ENST00000262198.4	37	c.3394T>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	0.086	-1.175421	0.01646	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.43	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8593	0.18736	0.0:0.2467:0.4957:0.2576	.	.	.	.	K	1132	.	.	X	+	1	0	ADNP2	75997681	0.028000	0.19301	0.887000	0.34795	0.103000	0.19146	-0.208000	0.09371	0.109000	0.17891	-0.366000	0.07423	TAA		0.303	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		16	65	0	0	0	1	0	16	65				
PLEKHM2	23207	broad.mit.edu	37	1	16056392	16056392	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:16056392G>A	ENST00000375799.3	+	14	2403	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A706T|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	726					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCTGGCACTGGCCAAATTTGT	0.557																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2176-2178)Gcc>Acc		pleckstrin homology domain containing, family M (with RUN domain) member 2							64.0	68.0	66.0					1																	16056392		2037	4193	6230	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16056392G>A	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2176G>A	1.37:g.16056392G>A	ENSP00000364956:p.Ala726Thr					PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A706T|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR	p.A726T	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	14	2403	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	726					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.2176G>A	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872165	0.33069	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.46063	0.89;0.88	5.47	5.47	0.80525	.	0.054388	0.64402	D	0.000001	T	0.29288	0.0729	N	0.12182	0.205	0.48040	D	0.999579	B	0.26902	0.163	B	0.24394	0.053	T	0.05733	-1.0867	10	0.31617	T	0.26	-24.9066	19.3302	0.94283	0.0:0.0:1.0:0.0	.	726	Q8IWE5	PKHM2_HUMAN	T	726;706	ENSP00000364956:A726T;ENSP00000364950:A706T	ENSP00000364950:A706T	A	+	1	0	PLEKHM2	15928979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.803000	0.69129	2.572000	0.86782	0.591000	0.81541	GCC		0.557	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		5	257	0	0	0	1	0	5	257				
AKR7L	246181	broad.mit.edu	37	1	19595852	19595852	+	RNA	SNP	G	G	A	rs570127845		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:19595852G>A	ENST00000429712.1	-	0	737				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						TGTACTTGCCGGTCAGCAGGC	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		15981	0.001		0.0	False		,,,				2504	0.0					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							88.0	89.0	89.0					1																	19595852		692	1591	2283			246181							g.chr1:19595852G>A			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.19595852G>A						AKR7L_ENST00000429712.1_RNA								0	507	-								Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.627	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		5	272	0	0	0	1	0	5	272				
DOCK9	23348	broad.mit.edu	37	13	99567729	99567729	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:99567729T>C	ENST00000376460.1	-	8	826	c.746A>G	c.(745-747)gAg>gGg	p.E249G	DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G|DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G|DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	250	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCTTGAGCTCAAAAGCAAA	0.353																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(745-747)gAg>gGg		dedicator of cytokinesis 9							72.0	65.0	68.0					13																	99567729		1936	4149	6085	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99567729T>C	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.746A>G	13.37:g.99567729T>C	ENSP00000365643:p.Glu249Gly					DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G|DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G|DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G	p.E249G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			8	826	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		250			PH.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.746A>G	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.584483	0.86748	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.83	4.83	0.62350	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.985;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.982;1.0	D	0.91171	0.4968	9	.	.	.	.	14.4179	0.67163	0.0:0.0:0.0:1.0	.	250;249;249;249;250	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	G	249;250;250;250;249;250;261;249	ENSP00000365643:E249G;ENSP00000341086:E250G;ENSP00000401958:E261G;ENSP00000406883:E249G	.	E	-	2	0	DOCK9	98365730	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.580000	0.82523	1.824000	0.53156	0.533000	0.62120	GAG		0.353	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		5	106	0	0	0	1	0	5	106				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		48	213	0	0	0	1	0	48	213				
RPLP0P2	113157	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		ctgctgctgctgcAGCCCCAG	0.552																																						ENST00000496593.1																			0																																																			0							g.chr11:61405030T>A	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405030T>A								NR_002775.2						0	1634	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.552	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		4	237	0	0	0	1	0	4	237				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			7	186	0	0	0	1	0	7	186				
CIT	11113	broad.mit.edu	37	12	120198768	120198768	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120198768C>T	ENST00000261833.7	-	19	2322	c.2270G>A	c.(2269-2271)gGc>gAc	p.G757D	CIT_ENST00000392521.2_Missense_Mutation_p.G799D|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	757					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGAATTTTGCCCTTCTCATG	0.468																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(2395-2397)gGc>gAc		citron (rho-interacting, serine/threonine kinase 21)							227.0	207.0	214.0					12																	120198768		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120198768C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2270G>A	12.37:g.120198768C>T	ENSP00000261833:p.Gly757Asp					CIT_ENST00000261833.7_Missense_Mutation_p.G757D|CIT_ENST00000537607.1_5'UTR	p.G799D	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	20	2451	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	757					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2396G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.41|16.41	3.115986|3.115986	0.56505|0.56505	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.63580	.|-0.05;-0.0	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.238217	.|0.43110	.|D	.|0.000601	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.14661|0.14661	0.345|0.345	0.38369|0.38369	D|D	0.944814|0.944814	.|B;B;B	.|0.26845	.|0.03;0.03;0.161	.|B;B;B	.|0.23852	.|0.022;0.022;0.049	T|T	0.42816|0.42816	-0.9429|-0.9429	5|10	.|0.14252	.|T	.|0.57	.|.	13.9957|13.9957	0.64397|0.64397	0.0:0.9315:0.0:0.0685|0.0:0.9315:0.0:0.0685	.|.	.|799;757;290	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|D	385|799;757	.|ENSP00000376306:G799D;ENSP00000261833:G757D	.|ENSP00000261833:G757D	A|G	-|-	1|2	0|0	CIT|CIT	118683151|118683151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.928000|3.928000	0.56506|0.56506	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.468	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		7	525	0	0	0	1	0	7	525				
ANKRD30A	91074	broad.mit.edu	37	10	37478443	37478443	+	Missense_Mutation	SNP	A	A	G	rs199828555	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr10:37478443A>G	ENST00000602533.1	+	25	2401	c.2302A>G	c.(2302-2304)Acg>Gcg	p.T768A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T887A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	824					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T768A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCAAGGCTACGCATCAAAA	0.289													.|||	43	0.00858626	0.0098	0.0086	5008	,	,		14201	0.005		0.0179	False		,,,				2504	0.001					ENST00000374660.1																			2	Substitution - Missense(2)	p.T768A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2659-2661)Acg>Gcg		ankyrin repeat domain 30A							13.0	10.0	11.0					10																	37478443		386	1018	1404	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37478443A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2302A>G	10.37:g.37478443A>G	ENSP00000473551:p.Thr768Ala					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR	p.T887A			Q9BXX3	AN30A_HUMAN			31	2758	+			943					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2659A>G		.	.	.	.	.	.	.	.	.	.	.	2.496	-0.316242	0.05422	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06068	3.35;3.35	0.746	-1.49	0.08718	.	.	.	.	.	T	0.08447	0.0210	L	0.46157	1.445	0.09310	N	1	P	0.40332	0.713	P	0.48654	0.585	T	0.28235	-1.0050	9	0.31617	T	0.26	.	4.1534	0.10249	0.4946:0.0:0.5054:0.0	.	824	Q9BXX3	AN30A_HUMAN	A	768;887	ENSP00000354432:T768A;ENSP00000363792:T887A	ENSP00000354432:T768A	T	+	1	0	ANKRD30A	37518449	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.108000	0.10857	-0.775000	0.04584	-0.537000	0.04273	ACG		0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	293	0	0	0	1	0	5	293				
LRRCC1	85444	broad.mit.edu	37	8	86022348	86022348	+	Splice_Site	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:86022348A>T	ENST00000360375.3	+	3	459		c.e3-1		LRRCC1_ENST00000414626.2_Splice_Site	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(4)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ttttttttttaGGACTTGAAG	0.244																																						ENST00000414626.2																			4	Unknown(4)	p.?(4)	kidney(4)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.e2-1		leucine rich repeat and coiled-coil centrosomal protein 1							53.0	48.0	49.0					8																	86022348		1779	4047	5826	SO:0001630	splice_region_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86022348A>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.311-1A>T	8.37:g.86022348A>T						LRRCC1_ENST00000360375.3_Splice_Site				Q9C099	LRCC1_HUMAN			2	1139	+								B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Splice_Site	SNP	ENST00000360375.3	37		CCDS43750.1																																																																																				0.244	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	Intron	6	514	0	0	0	1	0	6	514				
ATP10A	57194	broad.mit.edu	37	15	25940081	25940081	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:25940081G>A	ENST00000356865.6	-	14	3084	c.2973C>T	c.(2971-2973)ttC>ttT	p.F991F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	991					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAAGGAAGAGGAATTTGTCCT	0.617																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2971-2973)ttC>ttT		ATPase, class V, type 10A							90.0	88.0	88.0					15																	25940081		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940081G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2973C>T	15.37:g.25940081G>A							p.F991F	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	3084	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	991					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2973C>T	CCDS32178.1																																																																																				0.617	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		38	201	0	0	0	1	0	38	201				
CRADD	8738	broad.mit.edu	37	12	94244044	94244044	+	Silent	SNP	G	G	A	rs116316289	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:94244044G>A	ENST00000542893.2	+	3	915	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CRADD_ENST00000332896.3_Silent_p.E199E|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	199					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						ACATGTTGGAGTGATGGTGCC	0.597													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		17015	0.0		0.0	False		,,,				2504	0.0					ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(595-597)gaG>gaA		CASP2 and RIPK1 domain containing adaptor with death domain		G		29,4333		0,29,2152	32.0	33.0	33.0		597	2.3	1.0	12	dbSNP_132	33	0,8552		0,0,4276	no	coding-synonymous	CRADD	NM_003805.3		0,29,6428	AA,AG,GG		0.0,0.6648,0.2246		199/200	94244044	29,12885	2181	4276	6457	SO:0001819	synonymous_variant	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94244044G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.597G>A	12.37:g.94244044G>A						CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Silent_p.E199E|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000548483.1_Intron	p.E199E			P78560	CRADD_HUMAN			3	915	+			199					B7Z2Q5	Silent	SNP	ENST00000542893.2	37	c.597G>A	CCDS9048.1																																																																																				0.597	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		6	158	0	0	0	1	0	6	158				
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000398080.1_Silent_p.C155C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380043.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(745-747)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377.0	317.0	337.0					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	X.37:g.17770059C>T						SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	p.C249C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN			6	1075	+	Hepatocellular(33;0.183)		276					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.747C>T	CCDS35210.1																																																																																				0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		10	1568	0	0	0	1	0	10	1568				
UGT2A1	10941	broad.mit.edu	37	4	70505048	70505048	+	Intron	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:70505048A>T	ENST00000503640.1	-	1	771				UGT2A1_ENST00000514019.1_Missense_Mutation_p.I305N|UGT2A1_ENST00000286604.4_Intron|UGT2A2_ENST00000457664.2_Missense_Mutation_p.I104N|UGT2A1_ENST00000512704.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTATGGTCAATCCACAGCAT	0.368																																						ENST00000457664.2																			0											c.(310-312)aTt>aAt									117.0	113.0	114.0					4																	70505048		1858	4097	5955	SO:0001627	intron_variant	0							g.chr4:70505048A>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7599T>A	4.37:g.70505048A>T						UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.I305N|UGT2A1_ENST00000512704.1_Intron	p.I104N	NM_001105677.2	NP_001099147.2					1	310	-								B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.311T>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	A	7.908	0.735923	0.15574	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.61859	0.16;0.07	5.85	3.38	0.38709	.	.	.	.	.	T	0.41604	0.1166	N	0.14661	0.345	.	.	.	B;P	0.39282	0.427;0.666	B;B	0.42827	0.399;0.328	T	0.49263	-0.8958	8	0.40728	T	0.16	.	7.2167	0.25963	0.7765:0.1468:0.0766:0.0	.	305;104	E9PDM7;Q9Y4X1-2	.;.	N	104;305	ENSP00000387888:I104N;ENSP00000425497:I305N	ENSP00000387888:I104N	I	-	2	0	UGT2A1	70539637	0.004000	0.15560	0.888000	0.34837	0.834000	0.47266	2.203000	0.42752	0.464000	0.27142	-0.446000	0.05623	ATT		0.368	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		7	361	0	0	0	1	0	7	361				
TRIM51	84767	broad.mit.edu	37	11	55655602	55655602	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:55655602T>A	ENST00000449290.2	+	4	694	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	TRIM51_ENST00000244891.3_Missense_Mutation_p.L58Q	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	201						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TTGGAAAGGCTGCGAAAGGAG	0.433																																						ENST00000449290.2																			0											c.(601-603)cTg>cAg		tripartite motif-containing 51							63.0	60.0	61.0					11																	55655602		2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655602T>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.602T>A	11.37:g.55655602T>A	ENSP00000395086:p.Leu201Gln					TRIM51_ENST00000244891.3_Missense_Mutation_p.L58Q	p.L201Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			4	694	+			201					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.602T>A		.	.	.	.	.	.	.	.	.	.	.	10.17	1.277679	0.23307	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.10192	2.9;2.9	0.757	0.757	0.18427	.	.	.	.	.	T	0.35068	0.0919	M	0.93197	3.39	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.09997	-1.0649	9	0.87932	D	0	.	3.8345	0.08888	0.0:0.0:0.0:1.0	.	201	Q9BSJ1	SPRY5_HUMAN	Q	201;58	ENSP00000395086:L201Q;ENSP00000244891:L58Q	ENSP00000244891:L58Q	L	+	2	0	SPRYD5	55412178	0.014000	0.17966	0.001000	0.08648	0.342000	0.28953	1.160000	0.31761	0.594000	0.29761	0.128000	0.15822	CTG		0.433	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		42	231	0	0	0	1	0	42	231				
PTPRM	5797	broad.mit.edu	37	18	7567856	7567856	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:7567856C>A	ENST00000332175.8	+	1	1077	c.40C>A	c.(40-42)Ctt>Att	p.L14I	PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I|PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	14					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTGGCCGGACTTTTGCTAAC	0.756																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(40-42)Ctt>Att		protein tyrosine phosphatase, receptor type, M							56.0	55.0	55.0					18																	7567856		2203	4299	6502	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7567856C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.40C>A	18.37:g.7567856C>A	ENSP00000331418:p.Leu14Ile					PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I|PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I	p.L14I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			1	1077	+		Colorectal(10;0.234)	14					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.40C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342799	0.61073	.	.	ENSG00000173482	ENST00000332175;ENST00000400060	T;T	0.38401	1.14;1.14	3.47	3.47	0.39725	.	0.288191	0.23920	N	0.043243	T	0.28267	0.0698	L	0.39898	1.24	0.80722	D	1	B;B	0.21688	0.059;0.059	B;B	0.13407	0.009;0.009	T	0.06972	-1.0797	10	0.15952	T	0.53	.	14.55	0.68059	0.0:1.0:0.0:0.0	.	14;14	A7MBN1;P28827	.;PTPRM_HUMAN	I	14	ENSP00000331418:L14I;ENSP00000382933:L14I	ENSP00000331418:L14I	L	+	1	0	PTPRM	7557856	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.495000	0.35627	1.498000	0.48600	0.305000	0.20034	CTT		0.756	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			37	227	1	0	1.96642e-18	1	2.12629e-18	37	227				
TCEAL2	140597	broad.mit.edu	37	X	101382205	101382205	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:101382205C>T	ENST00000372780.1	+	3	622	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GGATGATATACCCAGGAAAGC	0.483																																						ENST00000372780.1																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(403-405)Ccc>Tcc		transcription elongation factor A (SII)-like 2							104.0	103.0	103.0					X																	101382205		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382205C>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.403C>T	X.37:g.101382205C>T	ENSP00000361866:p.Pro135Ser					TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S	p.P135S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN			3	622	+			135					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.403C>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461939	0.43736	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.09445	2.98;2.98	3.43	2.57	0.30868	.	0.000000	0.47093	D	0.000250	T	0.26448	0.0646	M	0.74258	2.255	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.02581	-1.1138	10	0.62326	D	0.03	.	5.8361	0.18607	0.0:0.8506:0.0:0.1494	.	135	Q9H3H9	TCAL2_HUMAN	S	135	ENSP00000361866:P135S;ENSP00000332359:P135S	ENSP00000332359:P135S	P	+	1	0	TCEAL2	101268861	0.637000	0.27216	0.037000	0.18230	0.992000	0.81027	1.350000	0.34010	0.824000	0.34613	0.594000	0.82650	CCC		0.483	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		97	483	0	0	0	1	0	97	483				
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A	rs534005643		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:8609872C>A	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711																																						ENST00000329286.6																			1	Substitution - coding silent(1)	p.G49G(1)	prostate(1)	breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						c.(145-147)ggC>ggA		RAB12, member RAS oncogene family							12.0	17.0	15.0					18																	8609872		1918	4118	6036	SO:0001819	synonymous_variant	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8609872C>A		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.147C>A	18.37:g.8609872C>A							p.G49G	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN			1	430	+			49					A6NEF5|Q4KMQ3	Silent	SNP	ENST00000329286.6	37	c.147C>A	CCDS42410.1																																																																																				0.711	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		5	53	1	0	0.014758	1	0.0150986	5	53				
MUC4	4585	broad.mit.edu	37	3	195505830	195505830	+	Silent	SNP	G	G	C	rs373203224		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:195505830G>C	ENST00000463781.3	-	2	13080	c.12621C>G	c.(12619-12621)acC>acG	p.T4207T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4207T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T4207T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGAAGAGGGGTGGCGTGAC	0.602																																						ENST00000463781.3																			1	Substitution - coding silent(1)	p.T4207T(1)	kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12619-12621)acC>acG		mucin 4, cell surface associated							16.0	15.0	15.0					3																	195505830		686	1569	2255	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505830G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12621C>G	3.37:g.195505830G>C						MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4207T|MUC4_ENST00000349607.4_Intron	p.T4207T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13080	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	970					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.12621C>G	CCDS54700.1																																																																																				0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	22	0	0	0	1	0	4	22				
GTPBP10	85865	broad.mit.edu	37	7	89984432	89984432	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:89984432G>A	ENST00000222511.6	+	4	418	c.352G>A	c.(352-354)Gta>Ata	p.V118I	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	118					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CAGAATTTTGGTAGCTCAAGG	0.318																																						ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.(352-354)Gta>Ata		GTP-binding protein 10 (putative)							93.0	99.0	97.0					7																	89984432		2203	4299	6502	SO:0001583	missense	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:89984432G>A		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.352G>A	7.37:g.89984432G>A	ENSP00000222511:p.Val118Ile					GTPBP10_ENST00000257659.8_Intron	p.V118I	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			4	418	+			118					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	c.352G>A	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207693	0.58343	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000222511	T;T;T	0.23147	1.92;1.92;1.92	5.93	1.65	0.23941	GTP1/OBG subdomain (3);	0.255751	0.38111	N	0.001808	T	0.20047	0.0482	N	0.25825	0.765	0.41162	D	0.986103	P;B;B	0.34639	0.461;0.142;0.087	B;B;B	0.40940	0.186;0.134;0.344	T	0.04723	-1.0931	9	.	.	.	-5.9962	11.8274	0.52275	0.2753:0.0:0.7247:0.0	.	118;109;135	A4D1E9;C9J8R7;C9JNI1	GTPBA_HUMAN;.;.	I	109;135;118	ENSP00000405697:V109I;ENSP00000389510:V135I;ENSP00000222511:V118I	.	V	+	1	0	GTPBP10	89822368	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.014000	0.57145	0.417000	0.25871	0.655000	0.94253	GTA		0.318	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		9	738	0	0	0	1	0	9	738				
ENAM	10117	broad.mit.edu	37	4	71508016	71508016	+	Silent	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:71508016A>T	ENST00000396073.3	+	9	1154	c.873A>T	c.(871-873)ccA>ccT	p.P291P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	291					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGATTGGCCCACTCCCTGCAG	0.512																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(871-873)ccA>ccT		enamelin							66.0	62.0	63.0					4																	71508016		2203	4300	6503	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508016A>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.873A>T	4.37:g.71508016A>T						ENAM_ENST00000472903.1_Intron	p.P291P	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1154	+			291					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.873A>T	CCDS3544.2																																																																																				0.512	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		5	299	0	0	0	1	0	5	299				
KRT78	196374	broad.mit.edu	37	12	53233575	53233575	+	Missense_Mutation	SNP	C	C	T	rs373055664		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:53233575C>T	ENST00000304620.4	-	7	1304	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	KRT78_ENST00000359499.4_Missense_Mutation_p.R304H	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	414	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCAGCCTGCGGTAAGTGGC	0.607																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(910-912)cGc>cAc		keratin 78		C	HIS/ARG	0,4406		0,0,2203	70.0	61.0	64.0		1241	3.0	1.0	12		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT78	NM_173352.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	414/521	53233575	1,13005	2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53233575C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1241G>A	12.37:g.53233575C>T	ENSP00000306261:p.Arg414His					KRT78_ENST00000304620.4_Missense_Mutation_p.R414H	p.R304H			Q8N1N4	K2C78_HUMAN			7	922	-			414			Coil 2.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.911G>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803941	0.50315	0.0	1.16E-4	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.94687	-3.49;-3.49	3.89	2.98	0.34508	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.95043	0.8395	M	0.92833	3.35	0.27025	N	0.964374	B	0.31459	0.324	B	0.28465	0.09	D	0.91031	0.4864	9	0.72032	D	0.01	.	12.4504	0.55675	0.0:0.8293:0.1707:0.0	.	414	Q8N1N4	K2C78_HUMAN	H	304;414;185	ENSP00000352479:R304H;ENSP00000306261:R414H	ENSP00000306261:R414H	R	-	2	0	KRT78	51519842	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.883000	0.39658	0.966000	0.38159	-0.502000	0.04539	CGC		0.607	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		6	208	0	0	0	1	0	6	208				
CDC14A	8556	broad.mit.edu	37	1	100964516	100964516	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:100964516C>T	ENST00000336454.3	+	15	1808	c.1453C>T	c.(1453-1455)Cta>Tta	p.L485L	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Silent_p.L427L|CDC14A_ENST00000544534.1_Silent_p.L485L|CDC14A_ENST00000361544.6_Silent_p.L485L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	485					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGCCAGTTCTCTAGGGAACTT	0.458																																						ENST00000336454.3																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(1453-1455)Cta>Tta		cell division cycle 14A							52.0	53.0	53.0					1																	100964516		2203	4300	6503	SO:0001819	synonymous_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100964516C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1453C>T	1.37:g.100964516C>T						CDC14A_ENST00000544534.1_Silent_p.L485L|CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000542213.1_Silent_p.L427L|CDC14A_ENST00000370125.2_3'UTR	p.L485L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	15	1808	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	485					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	c.1453C>T	CCDS769.1																																																																																				0.458	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		43	173	0	0	0	1	0	43	173				
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Intron	SNP	C	C	G	rs200914896		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr9:78790192C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.R683G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2047-2049)Cga>Gga		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790192C>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+147C>G	9.37:g.78790192C>G						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.R683G			Q92824	PCSK5_HUMAN			14	2559	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2047C>G	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.525|0.525	-0.860634|-0.860634	0.02610|0.02610	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.65916|.	-0.18|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38045|0.38045	-0.9679|-0.9679	7|4	0.07325|0.87932	T|D	0.83|0	.|.	2.8186|2.8186	0.05465|0.05465	0.5:0.5:0.0:0.0|0.5:0.5:0.0:0.0	.|.	683|.	B1AMG5|.	.|.	G|W	683|681	ENSP00000365958:R683G|.	ENSP00000365958:R683G|ENSP00000379415:S681W	R|S	+|+	1|2	2|0	PCSK5|PCSK5	77980012|77980012	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.077000|0.077000	0.17291|0.17291	-2.681000|-2.681000	0.00837|0.00837	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGA|TCG		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	24	0	0	0	1	0	5	24				
ALAS2	212	broad.mit.edu	37	X	55042077	55042077	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:55042077G>A	ENST00000330807.5	-	8	1239	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	368					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCAGCGCCCCGGGACCCATAC	0.527																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1102-1104)Cgg>Tgg		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						83.0	70.0	74.0					X																	55042077		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55042077G>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1102C>T	X.37:g.55042077G>A	ENSP00000332369:p.Arg368Trp					ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W	p.R368W	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			8	1239	-			368					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1102C>T	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293539	0.60086	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95238	-3.65;-3.65;-3.65	5.75	2.8	0.32819	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.169618	0.52532	D	0.000065	D	0.97561	0.9201	H	0.94658	3.565	0.32571	N	0.529787	D;D;D	0.76494	0.994;0.999;0.999	P;D;P	0.64144	0.875;0.922;0.875	D	0.98784	1.0733	10	0.87932	D	0	-12.041	13.6877	0.62526	0.0:0.0:0.6071:0.3929	.	331;355;368	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	W	368;355;331	ENSP00000332369:R368W;ENSP00000379501:R355W;ENSP00000337131:R331W	ENSP00000332369:R368W	R	-	1	2	ALAS2	55058802	0.446000	0.25665	0.975000	0.42487	0.674000	0.39518	2.674000	0.46867	0.654000	0.30846	0.594000	0.82650	CGG		0.527	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		10	275	0	0	0	1	0	10	275				
MUC6	4588	broad.mit.edu	37	11	1016106	1016106	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:1016106G>A	ENST00000421673.2	-	31	6745	c.6695C>T	c.(6694-6696)aCc>aTc	p.T2232I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2232	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGACACGGTAACAGTGGA	0.602																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6694-6696)aCc>aTc		mucin 6, oligomeric mucus/gel-forming							65.0	77.0	73.0					11																	1016106		2151	4251	6402	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016106G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6695C>T	11.37:g.1016106G>A	ENSP00000406861:p.Thr2232Ile						p.T2232I	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6745	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2232			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6695C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.930	1.214525	0.22289	.	.	ENSG00000184956	ENST00000421673	T	0.18960	2.18	2.14	-0.539	0.11865	.	.	.	.	.	T	0.07638	0.0192	N	0.14661	0.345	0.09310	N	1	P	0.36647	0.563	B	0.23150	0.044	T	0.26430	-1.0103	9	0.30078	T	0.28	.	3.3997	0.07319	0.152:0.0:0.396:0.452	.	2232	Q6W4X9	MUC6_HUMAN	I	2232	ENSP00000406861:T2232I	ENSP00000406861:T2232I	T	-	2	0	MUC6	1006106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.066000	0.14489	-0.364000	0.08088	0.393000	0.25936	ACC		0.602	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		4	274	0	0	0	1	0	4	274				
HSPE1	3336	broad.mit.edu	37	2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|HSPD1_ENST00000345042.2_5'Flank|HSPE1_ENST00000465573.1_3'UTR|HSPE1-MOB4_ENST00000604458.1_Intron	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328																																						ENST00000233893.5																			0				lung(1)	1						c.(301-303)Gta>Ata		heat shock 10kDa protein 1							118.0	123.0	121.0					2																	198367975		2203	4299	6502	SO:0001583	missense	3336							g.chr2:198367975G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.301G>A	2.37:g.198367975G>A	ENSP00000233893:p.Val101Ile					MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|HSPE1_ENST00000409468.1_3'UTR	p.V101I	NM_002157.2	NP_002148.1			Epithelial(96;0.225)		4	744	+								O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.301G>A	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575327	0.28092	.	.	ENSG00000115541	ENST00000233893;ENST00000409729	.	.	.	5.1	0.0917	0.14469	GroES-like (1);	0.525107	0.18667	N	0.134546	T	0.39860	0.1094	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10314	-1.0635	9	0.36615	T	0.2	-4.7243	3.4473	0.07484	0.1357:0.1774:0.4574:0.2295	.	101	P61604	CH10_HUMAN	I	101;46	.	ENSP00000233893:V101I	V	+	1	0	HSPE1	198076220	0.991000	0.36638	0.910000	0.35882	0.821000	0.46438	2.144000	0.42197	-0.035000	0.13691	-1.268000	0.01426	GTA		0.328	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		7	615	0	0	0	1	0	7	615				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	219	1	0	0.184627	1	0.184627	4	219				
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2																			0																																																			0							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T								NR_003521.1						0	1785	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		5	165	0	0	0	1	0	5	165				
LRP1B	53353	broad.mit.edu	37	2	141773437	141773437	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:141773437A>T	ENST00000389484.3	-	13	2989	c.2018T>A	c.(2017-2019)gTg>gAg	p.V673E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	673					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCCTTCCCACGCTGTCATC	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2017-2019)gTg>gAg		low density lipoprotein receptor-related protein 1B							164.0	159.0	161.0					2																	141773437		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141773437A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2018T>A	2.37:g.141773437A>T	ENSP00000374135:p.Val673Glu	TSP Lung(27;0.18)					p.V673E	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	13	2989	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	673					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2018T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174941	0.78564	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94537	-3.45	5.75	5.75	0.90469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.084078	0.49305	U	0.000157	D	0.91418	0.7292	N	0.12569	0.235	0.40475	D	0.980386	D	0.58970	0.984	P	0.57679	0.825	D	0.88429	0.3034	10	0.02654	T	1	.	16.3534	0.83225	1.0:0.0:0.0:0.0	.	673	Q9NZR2	LRP1B_HUMAN	E	673;611	ENSP00000374135:V673E	ENSP00000374135:V673E	V	-	2	0	LRP1B	141489907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.768000	0.62293	2.311000	0.77944	0.528000	0.53228	GTG		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	534	0	0	0	1	0	5	534				
DNAJC30	84277	broad.mit.edu	37	7	73097630	73097630	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:73097630C>A	ENST00000395176.2	-	1	153	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR|WBSCR22_ENST00000265758.2_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	42						mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						TACGAGCAGTCGCCCTGGGAA	0.607																																						ENST00000395176.2																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(124-126)Gac>Tac		DnaJ (Hsp40) homolog, subfamily C, member 30							80.0	92.0	88.0					7																	73097630		2200	4293	6493	SO:0001583	missense	84277				protein folding		heat shock protein binding|unfolded protein binding	g.chr7:73097630C>A	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.124G>T	7.37:g.73097630C>A	ENSP00000378605:p.Asp42Tyr					WBSCR22_ENST00000464615.1_3'UTR	p.D42Y	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN			1	153	-			42					Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	37	c.124G>T	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297340	0.60086	.	.	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.57907	0.37	4.66	3.77	0.43336	Heat shock protein DnaJ, N-terminal (1);	0.393472	0.19126	N	0.122048	T	0.50803	0.1637	L	0.29908	0.895	0.29622	N	0.846083	D	0.62365	0.991	P	0.57283	0.817	T	0.47548	-0.9109	10	0.51188	T	0.08	-13.1658	6.82	0.23852	0.0:0.7956:0.0:0.2044	.	42	Q96LL9	DJC30_HUMAN	Y	42;39	ENSP00000378605:D42Y	ENSP00000378605:D42Y	D	-	1	0	DNAJC30	72735566	0.000000	0.05858	0.033000	0.17914	0.023000	0.10783	0.068000	0.14531	1.167000	0.42706	0.655000	0.94253	GAC		0.607	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2			80	405	1	0	3.27973e-32	1	3.63503e-32	80	405				
ZNF302	55900	broad.mit.edu	37	19	35175765	35175765	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35175765C>T	ENST00000446502.2	+	6	1163	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000505242.1_Missense_Mutation_p.H275Y|ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y			Q9NR11	ZN302_HUMAN	zinc finger protein 302	354					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTTACTAACCATCAGAGCAC	0.428																																						ENST00000505242.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(823-825)Cat>Tat		zinc finger protein 302							93.0	91.0	92.0					19																	35175765		2203	4300	6503	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175765C>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.955C>T	19.37:g.35175765C>T	ENSP00000396379:p.His319Tyr					ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000446502.2_Missense_Mutation_p.H319Y|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000505365.2_3'UTR	p.H275Y			Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1317	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		354					Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.823C>T		.	.	.	.	.	.	.	.	.	.	C	12.20	1.866730	0.32977	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	0.967	0.967	0.19674	.	.	.	.	.	D	0.94918	0.8357	H	0.97214	3.96	0.09310	N	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.973;0.999	D	0.85181	0.1004	9	0.87932	D	0	.	7.7985	0.29160	0.0:1.0:0.0:0.0	.	319;275	E7EVR1;Q9NR11-2	.;.	Y	275;275;275;319	ENSP00000391067:H275Y;ENSP00000421028:H275Y;ENSP00000405219:H275Y;ENSP00000396379:H319Y	ENSP00000405219:H275Y	H	+	1	0	ZNF302	39867605	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	6.528000	0.73807	0.822000	0.34565	0.467000	0.42956	CAT		0.428	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			142	388	0	0	0	1	0	142	388				
OR10S1	219873	broad.mit.edu	37	11	123847671	123847671	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:123847671C>T	ENST00000531945.1	-	1	817	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R243H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGGGCTGTGCGGATGCGCAA	0.602																																						ENST00000531945.1																			1	Substitution - Missense(1)	p.R243H(1)	endometrium(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(727-729)cGc>cAc		olfactory receptor, family 10, subfamily S, member 1							46.0	47.0	47.0					11																	123847671		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847671C>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.728G>A	11.37:g.123847671C>T	ENSP00000431914:p.Arg243His						p.R243H	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	817	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	243					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.728G>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	0.664	-0.804634	0.02819	.	.	ENSG00000196248	ENST00000531945	T	0.39229	1.09	4.85	0.979	0.19745	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000680	T	0.19406	0.0466	N	0.17838	0.53	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.09729	-1.0661	10	0.20519	T	0.43	-8.8926	1.6508	0.02771	0.1318:0.368:0.1283:0.3719	.	243	Q8NGN2	O10S1_HUMAN	H	243	ENSP00000431914:R243H	ENSP00000431914:R243H	R	-	2	0	OR10S1	123352881	0.000000	0.05858	0.043000	0.18650	0.001000	0.01503	-2.583000	0.00904	0.028000	0.15324	-0.782000	0.03352	CGC		0.602	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		5	248	0	0	0	1	0	5	248				
PCDHB12	56124	broad.mit.edu	37	5	140589361	140589361	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:140589361T>G	ENST00000239450.2	+	1	1071	c.882T>G	c.(880-882)atT>atG	p.I294M	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	294	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTTGAAATTAATCAAAAGT	0.398																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(880-882)atT>atG									80.0	86.0	84.0					5																	140589361		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589361T>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.882T>G	5.37:g.140589361T>G	ENSP00000239450:p.Ile294Met					PCDHB12_ENST00000541609.1_Intron	p.I294M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1071	+			294			Cadherin 3.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.882T>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390776	0.25118	.	.	ENSG00000120328	ENST00000239450	T	0.72615	-0.67	4.06	-0.424	0.12321	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70622	0.3245	M	0.81614	2.55	0.39524	D	0.968565	P	0.44429	0.835	P	0.49477	0.612	T	0.68341	-0.5434	9	0.59425	D	0.04	.	0.1734	0.00116	0.2491:0.1891:0.1861:0.3757	.	294	Q9Y5F1	PCDBC_HUMAN	M	294	ENSP00000239450:I294M	ENSP00000239450:I294M	I	+	3	3	PCDHB12	140569545	0.000000	0.05858	0.033000	0.17914	0.538000	0.34931	-4.588000	0.00212	0.078000	0.16900	0.402000	0.26972	ATT		0.398	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		48	627	0	0	0	1	0	48	627				
EPO	2056	broad.mit.edu	37	7	100320671	100320671	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100320671G>A	ENST00000252723.2	+	5	678	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	166					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACACTTTCCGCAAACTCTTC	0.572																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(496-498)cGc>cAc		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						126.0	129.0	128.0					7																	100320671		2203	4300	6503	SO:0001583	missense	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320671G>A	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.497G>A	7.37:g.100320671G>A	ENSP00000252723:p.Arg166His						p.R166H	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			5	678	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		166					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.497G>A	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	8.531	0.870924	0.17322	.	.	ENSG00000130427	ENST00000252723	T	0.48836	0.8	5.27	2.26	0.28386	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.580439	0.18303	N	0.145360	T	0.23014	0.0556	N	0.08118	0	0.19775	N	0.99996	B;B	0.23806	0.091;0.091	B;B	0.08055	0.003;0.003	T	0.11616	-1.0580	10	0.46703	T	0.11	-36.0186	6.5646	0.22505	0.0954:0.3568:0.5478:0.0	.	165;166	B7ZKK5;P01588	.;EPO_HUMAN	H	166	ENSP00000252723:R166H	ENSP00000252723:R166H	R	+	2	0	EPO	100158607	0.997000	0.39634	0.797000	0.32132	0.101000	0.19017	1.375000	0.34295	1.333000	0.45449	0.643000	0.83706	CGC		0.572	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		6	596	0	0	0	1	0	6	596				
BPTF	2186	broad.mit.edu	37	17	65862768	65862768	+	Missense_Mutation	SNP	G	G	A	rs200596839		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:65862768G>A	ENST00000321892.4	+	3	1686	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	BPTF_ENST00000306378.6_Missense_Mutation_p.R542Q|BPTF_ENST00000335221.5_Missense_Mutation_p.R542Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R403Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	542					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATAAGGCTCGGGGCAGTAAC	0.418																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1624-1626)cGg>cAg		bromodomain PHD finger transcription factor							76.0	80.0	79.0					17																	65862768		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65862768G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1625G>A	17.37:g.65862768G>A	ENSP00000315454:p.Arg542Gln					BPTF_ENST00000335221.5_Missense_Mutation_p.R542Q|BPTF_ENST00000306378.6_Missense_Mutation_p.R542Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R403Q	p.R542Q			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1686	+	all_cancers(12;6e-11)		542					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1625G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.667001	0.88251	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.71698	-0.48;-0.59;-0.56	5.84	5.84	0.93424	.	.	.	.	.	D	0.82674	0.5088	L	0.54323	1.7	0.80722	D	1	D;P;D	0.89917	1.0;0.943;1.0	D;P;D	0.85130	0.992;0.584;0.997	T	0.82866	-0.0245	9	0.72032	D	0.01	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	542;542;542	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	Q	447;542;542;542;403	ENSP00000307208:R542Q;ENSP00000334351:R542Q;ENSP00000315454:R542Q	ENSP00000307208:R542Q	R	+	2	0	BPTF	63293230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.229000	0.95273	2.760000	0.94817	0.655000	0.94253	CGG		0.418	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	267	0	0	0	1	0	4	267				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			0							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	272	0	0	0	1	0	7	272				
DPP6	1804	broad.mit.edu	37	7	154585899	154585899	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:154585899G>A	ENST00000377770.3	+	11	1388	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	DPP6_ENST00000427557.1_Missense_Mutation_p.G309E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E|DPP6_ENST00000404039.1_Missense_Mutation_p.G352E			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	416					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCCACCACGGGGGTCTGCACG	0.672																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1054-1056)gGg>gAg		dipeptidyl-peptidase 6							25.0	28.0	27.0					7																	154585899		2047	4184	6231	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154585899G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1247G>A	7.37:g.154585899G>A	ENSP00000367001:p.Gly416Glu					DPP6_ENST00000427557.1_Missense_Mutation_p.G309E|DPP6_ENST00000377770.3_Missense_Mutation_p.G416E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E	p.G352E	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		11	1642	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	416						Missense_Mutation	SNP	ENST00000377770.3	37	c.1055G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.469040	0.96274	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	4.21	0.49690	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.91635	0.969;0.997;0.999;0.998	T	0.79683	-0.1701	10	0.59425	D	0.04	-17.0272	16.5503	0.84471	0.0:0.0:1.0:0.0	.	309;354;416;352	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	E	352;416;354;309	ENSP00000385578:G352E;ENSP00000367001:G416E;ENSP00000328226:G354E;ENSP00000397303:G309E	ENSP00000328226:G354E	G	+	2	0	DPP6	154216832	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	9.205000	0.95048	2.070000	0.61991	0.650000	0.86243	GGG		0.672	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		19	79	0	0	0	1	0	19	79				
ZNF720	124411	broad.mit.edu	37	16	31766391	31766391	+	Intron	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:31766391C>A	ENST00000316491.9	+	4	560				ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000399681.3_Nonsense_Mutation_p.S260*	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						TGTGGTAAATCATTTAAAGTG	0.368																																						ENST00000399681.3																			0				endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						c.(778-780)tCa>tAa		zinc finger protein 720																																				SO:0001627	intron_variant	124411				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:31766391C>A	AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.361+1170C>A	16.37:g.31766391C>A						ZNF720_ENST00000316491.9_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000534369.1_Intron	p.S260*			Q7Z2F6	ZN720_HUMAN			6	1258	+			0					Q6ZQX1	Nonsense_Mutation	SNP	ENST00000316491.9	37	c.779C>A	CCDS45473.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.822513	0.90873	.	.	ENSG00000197302	ENST00000399681	.	.	.	0.965	0.965	0.19661	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.9063	0.13800	0.0:0.6057:0.3943:0.0	.	.	.	.	X	260	.	ENSP00000440701:S260X	S	+	2	0	ZNF720	31673892	0.000000	0.05858	0.384000	0.26145	0.354000	0.29330	-0.893000	0.04127	0.847000	0.35167	0.561000	0.74099	TCA		0.368	ZNF720-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394883.3	NM_001004300		9	48	1	0	0.000274275	1	0.000284989	9	48				
SMPD1	6609	broad.mit.edu	37	11	6413007	6413007	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:6413007G>A	ENST00000342245.4	+	2	880	c.712G>A	c.(712-714)Gca>Aca	p.A238T	SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T|SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	236					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	CCTGCCGCCCGCATCCCGGCC	0.672																																						ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(712-714)Gca>Aca		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						42.0	51.0	48.0					11																	6413007		2201	4296	6497	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6413007G>A	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.712G>A	11.37:g.6413007G>A	ENSP00000340409:p.Ala238Thr					SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T|SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T	p.A238T	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	880	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	236					A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.712G>A	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158173	0.01686	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.10288	2.9;2.91;2.89;2.9	5.15	-1.88	0.07713	Metallophosphoesterase domain (1);	1.029790	0.07657	N	0.932959	T	0.04907	0.0132	N	0.17800	0.525	0.09310	N	1	B;B;B	0.15141	0.007;0.012;0.009	B;B;B	0.09377	0.003;0.004;0.004	T	0.45264	-0.9273	10	0.11182	T	0.66	-34.8036	1.7151	0.02900	0.4933:0.1325:0.2251:0.1491	.	237;238;236	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	T	238;238;238;237	ENSP00000299397:A238T;ENSP00000349203:A238T;ENSP00000340409:A238T;ENSP00000435350:A237T	ENSP00000299397:A238T	A	+	1	0	SMPD1	6369583	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	-1.087000	0.03383	0.025000	0.15241	-0.345000	0.07892	GCA		0.672	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		5	277	0	0	0	1	0	5	277				
HMGCR	3156	broad.mit.edu	37	5	74646647	74646647	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:74646647C>T	ENST00000287936.4	+	9	970	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	272					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGCTCACAGTCGCTGGATAGC	0.368																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(814-816)Cgc>Tgc		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						128.0	129.0	128.0					5																	74646647		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74646647C>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.814C>T	5.37:g.74646647C>T	ENSP00000287936:p.Arg272Cys					HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C|HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C	p.R272C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	9	970	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	272					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.814C>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171053	0.94807	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.59502	0.37;0.37;0.26	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.977;0.945;0.986;0.964	T	0.80067	-0.1537	10	0.72032	D	0.01	-13.5435	20.3248	0.98698	0.0:1.0:0.0:0.0	.	272;272;272;272	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	C	272;203;272;272	ENSP00000426745:R272C;ENSP00000287936:R272C;ENSP00000340816:R272C	ENSP00000287936:R272C	R	+	1	0	HMGCR	74682403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.924000	0.70054	2.818000	0.97014	0.655000	0.94253	CGC		0.368	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			7	379	0	0	0	1	0	7	379				
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATATGGGCCGCACAAGTTTT	0.423																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(253-255)cGc>cAc		CD86 molecule	Abatacept(DB01281)						143.0	142.0	142.0					3																	121822548		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822548G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	3.37:g.121822548G>A	ENSP00000332049:p.Arg85His					CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron	p.R85H	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	370	+			85			Ig-like V-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.254G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		8	793	0	0	0	1	0	8	793				
MST1L	11223	broad.mit.edu	37	1	17083597	17083597	+	RNA	SNP	G	G	A	rs186155999		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:17083597G>A	ENST00000455405.2	-	0	991							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aaccattttcgtttaagaaag	0.333																																						ENST00000455405.2																			0																																																			0							g.chr1:17083597G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083597G>A														0	991	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.333	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	34	0	0	0	1	0	5	34				
TPSD1	23430	broad.mit.edu	37	16	1306874	1306874	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:1306874G>A	ENST00000211076.3	+	3	479	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCTGCTGCCGGTCAGCAGGAT	0.627																																						ENST00000211076.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(331-333)Gtc>Atc		tryptase delta 1							61.0	63.0	62.0					16																	1306874		2199	4300	6499	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306874G>A	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.331G>A	16.37:g.1306874G>A	ENSP00000211076:p.Val111Ile					TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I	p.V111I	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN			3	479	+		Hepatocellular(780;0.00369)	111			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.331G>A	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.259525	0.23051	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.84298	-1.83;-1.83	2.55	-2.96	0.05547	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.262880	0.05827	N	0.616806	T	0.79822	0.4512	L	0.55990	1.75	0.09310	N	1	B;B	0.20459	0.008;0.045	B;B	0.26614	0.071;0.071	T	0.62530	-0.6835	10	0.44086	T	0.13	.	4.467	0.11694	0.3246:0.1675:0.508:0.0	.	95;111	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	I	104;111	ENSP00000380668:V104I;ENSP00000211076:V111I	ENSP00000211076:V111I	V	+	1	0	TPSD1	1246875	0.000000	0.05858	0.008000	0.14137	0.135000	0.20990	-1.596000	0.02091	-0.864000	0.04078	0.185000	0.17295	GTC		0.627	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			50	165	0	0	0	1	0	50	165				
MLLT3	4300	broad.mit.edu	37	9	20414398	20414398	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr9:20414398C>G	ENST00000380338.4	-	5	732	c.446G>C	c.(445-447)aGc>aCc	p.S149T	MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	149	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)				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)		gctgctgctgctgGTATGAAT	0.493			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		0				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.(445-447)aGc>aCc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							16.0	20.0	18.0					9																	20414398		1995	4074	6069	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414398C>G	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.446G>C	9.37:g.20414398C>G	ENSP00000369695:p.Ser149Thr					MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S149T	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	732	-			149			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.446G>C	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	3.851	-0.031821	0.07543	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	4.95	2.95	0.34219	.	0.391656	0.30630	N	0.009216	T	0.36608	0.0973	N	0.14661	0.345	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.0	T	0.13255	-1.0516	9	0.21540	T	0.41	-0.1362	11.0938	0.48132	0.0:0.6357:0.3643:0.0	.	149;146;149	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	T	149;146;188	.	ENSP00000369695:S149T	S	-	2	0	MLLT3	20404398	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.776000	0.38594	1.422000	0.47177	-0.181000	0.13052	AGC		0.493	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	335	0	0	0	1	0	5	335				
ZNF507	22847	broad.mit.edu	37	19	32845207	32845207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:32845207C>T	ENST00000311921.4	+	2	1663	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*|ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAGTCTCTTCGATTACACTC	0.463																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(1471-1473)Cga>Tga		zinc finger protein 507							57.0	60.0	59.0					19																	32845207		2203	4300	6503	SO:0001587	stop_gained	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32845207C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1471C>T	19.37:g.32845207C>T	ENSP00000312277:p.Arg491*					ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*	p.R491*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1663	+	Esophageal squamous(110;0.162)		491					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Nonsense_Mutation	SNP	ENST00000311921.4	37	c.1471C>T	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644048	0.87859	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	.	.	.	5.79	1.09	0.20402	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.1701	0.93574	0.2995:0.7005:0.0:0.0	.	.	.	.	X	491	.	ENSP00000312277:R491X	R	+	1	2	ZNF507	37537047	0.002000	0.14202	0.120000	0.21714	0.130000	0.20726	0.063000	0.14410	-0.159000	0.11021	-0.262000	0.10625	CGA		0.463	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		112	349	0	0	0	1	0	112	349				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	70	0	0	0	1	0	4	70				
CD6	923	broad.mit.edu	37	11	60777109	60777109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:60777109C>T	ENST00000313421.7	+	5	1033	c.847C>T	c.(847-849)Cga>Tga	p.R283*	CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*|CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	283	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGTACACTTCCGAGGGGTCTG	0.642																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(847-849)Cga>Tga		CD6 molecule							72.0	60.0	64.0					11																	60777109		2203	4299	6502	SO:0001587	stop_gained	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60777109C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.847C>T	11.37:g.60777109C>T	ENSP00000323280:p.Arg283*					CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron|CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*	p.R283*	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN			5	1033	+			283			SRCR 3.		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Nonsense_Mutation	SNP	ENST00000313421.7	37	c.847C>T	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312432	0.95655	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	.	.	.	4.76	4.76	0.60689	.	0.215583	0.30210	N	0.010146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3344	0.90282	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000323280:R283X	R	+	1	2	CD6	60533685	0.000000	0.05858	0.954000	0.39281	0.729000	0.41735	0.300000	0.19156	2.575000	0.86900	0.555000	0.69702	CGA		0.642	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		5	205	0	0	0	1	0	5	205				
UVRAG	7405	broad.mit.edu	37	11	75562938	75562938	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:75562938G>A	ENST00000356136.3	+	2	369	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	43					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CGGCGTCTTCGACATCTTCGG	0.363																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(127-129)cGa>cAa		UV radiation resistance associated							120.0	123.0	122.0					11																	75562938		2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75562938G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.128G>A	11.37:g.75562938G>A	ENSP00000348455:p.Arg43Gln					UVRAG_ENST00000528420.1_5'UTR	p.R43Q	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			2	369	+			43					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.128G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115643	0.94339	.	.	ENSG00000198382	ENST00000356136	T	0.62232	0.04	5.86	5.86	0.93980	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73216	-0.4053	10	0.72032	D	0.01	-11.0214	17.6814	0.88245	0.0:0.0:1.0:0.0	.	43	Q9P2Y5	UVRAG_HUMAN	Q	43	ENSP00000348455:R43Q	ENSP00000348455:R43Q	R	+	2	0	UVRAG	75240586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.661000	0.83786	2.765000	0.95021	0.655000	0.94253	CGA		0.363	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		31	722	0	0	0	1	0	31	722				
VAV3	10451	broad.mit.edu	37	1	108322082	108322082	+	Silent	SNP	T	T	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:108322082T>A	ENST00000370056.4	-	3	628	c.354A>T	c.(352-354)acA>acT	p.T118T	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000527011.1_Silent_p.T118T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	118	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGCTATAGGTGTTCGAGAAA	0.318																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(352-354)acA>acT		vav 3 guanine nucleotide exchange factor							115.0	109.0	111.0					1																	108322082		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108322082T>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.354A>T	1.37:g.108322082T>A						VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000527011.1_Silent_p.T118T	p.T118T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	3	628	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	118			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.354A>T	CCDS785.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808483	0.16467	.	.	ENSG00000134215	ENST00000490388	.	.	.	5.66	-2.99	0.05497	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32402	-0.9908	4	.	.	.	.	1.9071	0.03279	0.1262:0.3105:0.1305:0.4328	.	.	.	.	L	113	.	.	H	-	2	0	VAV3	108123605	0.350000	0.24878	0.943000	0.38184	0.624000	0.37722	-0.789000	0.04609	-0.883000	0.03982	-0.917000	0.02746	CAC		0.318	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		31	160	0	0	0	1	0	31	160				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	82	0	0	0	1	0	4	82				
BTBD11	121551	broad.mit.edu	37	12	108045502	108045502	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:108045502G>A	ENST00000280758.5	+	16	3571	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	Y_RNA_ENST00000410228.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K|BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1015						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGACACTGTGAGATTATCTG	0.463																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3043-3045)Gag>Aag		BTB (POZ) domain containing 11							108.0	101.0	103.0					12																	108045502		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108045502G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3043G>A	12.37:g.108045502G>A	ENSP00000280758:p.Glu1015Lys					BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K	p.E1015K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			16	3571	+			1015					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.3043G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370428	0.95900	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.14	5.14	0.70334	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86619	0.5976	M	0.87758	2.905	0.80722	D	1	D;D	0.69078	0.979;0.997	D;D	0.79108	0.982;0.992	D	0.88887	0.3343	10	0.87932	D	0	.	18.948	0.92628	0.0:0.0:1.0:0.0	.	552;1015	E9PHS4;A6QL63	.;BTBDB_HUMAN	K	1015;896;552;94	ENSP00000280758:E1015K;ENSP00000413889:E896K;ENSP00000349690:E552K;ENSP00000448322:E94K	ENSP00000280758:E1015K	E	+	1	0	BTBD11	106569632	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.258000	0.95555	2.535000	0.85469	0.655000	0.94253	GAG		0.463	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		5	157	0	0	0	1	0	5	157				
ZKSCAN3	80317	broad.mit.edu	37	6	28327520	28327520	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:28327520C>T	ENST00000377255.3	+	3	454	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	53	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CCGAGGCTTCCGCTACCCGGA	0.632																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(157-159)Cgc>Tgc		zinc finger with KRAB and SCAN domains 3							55.0	64.0	61.0					6																	28327520		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327520C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.157C>T	6.37:g.28327520C>T	ENSP00000366465:p.Arg53Cys					ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C	p.R53C	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			3	454	+			53			SCAN box.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.157C>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	13.62	2.292117	0.40594	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.04317	3.65;3.65	3.83	1.03	0.20045	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.03608	0.0103	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54084	-0.8346	9	0.35671	T	0.21	.	2.8501	0.05555	0.3008:0.3842:0.0:0.315	.	53	Q9BRR0	ZKSC3_HUMAN	C	53	ENSP00000252211:R53C;ENSP00000366465:R53C	ENSP00000252211:R53C	R	+	1	0	ZKSCAN3	28435499	0.711000	0.27906	0.995000	0.50966	0.580000	0.36256	-0.636000	0.05465	0.404000	0.25506	0.557000	0.71058	CGC		0.632	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		80	420	0	0	0	1	0	80	420				
AQP4	361	broad.mit.edu	37	18	24436280	24436280	+	Silent	SNP	C	C	T	rs371116956		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:24436280C>T	ENST00000383168.4	-	5	995	c.867G>A	c.(865-867)acG>acA	p.T289T	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4_ENST00000440832.3_Silent_p.T267T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	289					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.T289T(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TCAGGTCATCCGTCTCTACCT	0.478																																						ENST00000383168.4																			1	Substitution - coding silent(1)	p.T289T(1)	lung(1)	kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(865-867)acG>acA		aquaporin 4		C	,	1,4405	2.1+/-5.4	0,1,2202	360.0	295.0	317.0		867,801	-11.5	0.0	18		317	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AQP4	NM_001650.4,NM_004028.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	289/324,267/302	24436280	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436280C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.867G>A	18.37:g.24436280C>T						AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Silent_p.T267T|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'UTR	p.T289T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			5	995	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		289					P78564	Silent	SNP	ENST00000383168.4	37	c.867G>A	CCDS11889.1																																																																																				0.478	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		19	1010	0	0	0	1	0	19	1010				
MAGEA3	4102	broad.mit.edu	37	X	151935782	151935782	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:151935782G>A	ENST00000393902.3	-	3	952	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	MAGEA3_ENST00000370278.3_Missense_Mutation_p.P129S			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	129	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTGACCGGCTCCCTGGCT	0.522																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(385-387)Ccg>Tcg		melanoma antigen family A, 3							131.0	123.0	126.0					X																	151935782		2203	4292	6495	SO:0001583	missense	4102							g.chrX:151935782G>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.385C>T	X.37:g.151935782G>A	ENSP00000377480:p.Pro129Ser					MAGEA3_ENST00000370278.3_Missense_Mutation_p.P129S	p.P129S			P43357	MAGA3_HUMAN			3	952	-	Acute lymphoblastic leukemia(192;6.56e-05)		129			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.385C>T	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	g	10.45	1.352511	0.24512	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.06449	3.3;3.3;3.3	1.42	0.339	0.15979	.	0.601897	0.18231	N	0.147574	T	0.14570	0.0352	M	0.80508	2.5	0.09310	N	1	P	0.50272	0.933	P	0.54856	0.762	T	0.06338	-1.0832	10	0.59425	D	0.04	.	4.1473	0.10222	0.0:0.0:0.5984:0.4016	.	129	P43357	MAGA3_HUMAN	S	129	ENSP00000359301:P129S;ENSP00000377480:P129S;ENSP00000392758:P129S	ENSP00000359301:P129S	P	-	1	0	MAGEA3	151686438	0.026000	0.19158	0.001000	0.08648	0.009000	0.06853	1.948000	0.40303	0.043000	0.15746	0.358000	0.22013	CCG		0.522	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		8	1220	0	0	0	1	0	8	1220				
ZNF814	730051	broad.mit.edu	37	19	58384887	58384887	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:58384887C>T	ENST00000435989.2	-	3	2105	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	624					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGTGTGCATGCGCTGATGGTG	0.458																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1870-1872)cGc>cAc		zinc finger protein 814							75.0	60.0	65.0					19																	58384887		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58384887C>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1871G>A	19.37:g.58384887C>T	ENSP00000410545:p.Arg624His					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	p.R624H	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	2105	-			624					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1871G>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.486961	0.26686	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.25749	1.78	2.04	-3.61	0.04556	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34658	0.0905	M	0.85462	2.755	0.09310	N	1	D	0.76494	0.999	P	0.50440	0.641	T	0.21724	-1.0237	9	0.87932	D	0	.	3.8089	0.08789	0.0:0.3929:0.1863:0.4208	.	624	B7Z6K7	ZN814_HUMAN	H	624;374	ENSP00000410545:R624H	ENSP00000365378:R374H	R	-	2	0	ZNF814	63076699	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.574000	0.02133	-0.904000	0.03876	0.305000	0.20034	CGC		0.458	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		61	261	0	0	0	1	0	61	261				
SLC6A2	6530	broad.mit.edu	37	16	55730216	55730216	+	Silent	SNP	C	C	T	rs149035289		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:55730216C>T	ENST00000379906.2	+	8	1482	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000566163.1_Silent_p.F364F|SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000219833.8_Silent_p.F409F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	409					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTGTGTTTTTCGTCATGCTCC	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18354	0.0		0.0	False		,,,				2504	0.0					ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1225-1227)ttC>ttT		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	C	,,,	2,4394	4.2+/-10.8	0,2,2196	258.0	214.0	229.0		1227,1227,912,1227	4.4	1.0	16	dbSNP_134	229	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC6A2	NM_001043.3,NM_001172501.1,NM_001172502.1,NM_001172504.1	,,,	0,3,6495	TT,TC,CC		0.0116,0.0455,0.0231	,,,	409/618,409/618,304/513,409/629	55730216	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55730216C>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1227C>T	16.37:g.55730216C>T						SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000566163.1_Silent_p.F364F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F|SLC6A2_ENST00000219833.8_Silent_p.F409F	p.F409F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	8	1482	+			409					B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	c.1227C>T	CCDS10754.1																																																																																				0.542	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			130	528	0	0	0	1	0	130	528				
LPAR6	10161	broad.mit.edu	37	13	48986341	48986341	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:48986341C>T	ENST00000378434.4	-	7	1843	c.219G>A	c.(217-219)agG>agA	p.R73R	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.R73R	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						AGTAAAAAATCCTGAAGGGTA	0.358																																						ENST00000378434.4																			19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(217-219)agG>agA		lysophosphatidic acid receptor 6							57.0	51.0	53.0					13																	48986341		2203	4300	6503	SO:0001819	synonymous_variant	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48986341C>T	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.219G>A	13.37:g.48986341C>T						RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.R73R	p.R73R	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN			7	1843	-			73					A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Silent	SNP	ENST00000378434.4	37	c.219G>A	CCDS9410.1																																																																																				0.358	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		40	140	0	0	0	1	0	40	140				
ZNF343	79175	broad.mit.edu	37	20	2464701	2464701	+	Silent	SNP	G	G	A	rs149460018		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr20:2464701G>A	ENST00000278772.4	-	6	1393	c.906C>T	c.(904-906)tgC>tgT	p.C302C	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AACCTCGCCCGCACTCACTGC	0.473																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(904-906)tgC>tgT		zinc finger protein 343		G		2,4404	6.2+/-15.9	0,2,2201	77.0	66.0	70.0		906	-1.7	0.0	20	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	ZNF343	NM_024325.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		302/600	2464701	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464701G>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.906C>T	20.37:g.2464701G>A						RP4-734P14.4_ENST00000461548.1_Intron	p.C302C	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			6	1393	-			302					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.906C>T	CCDS13028.1																																																																																				0.473	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		5	278	0	0	0	1	0	5	278				
CIT	11113	broad.mit.edu	37	12	120271946	120271946	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120271946G>A	ENST00000261833.7	-	6	655	c.603C>T	c.(601-603)taC>taT	p.Y201Y	CIT_ENST00000392521.2_Silent_p.Y201Y	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTCAGCTAGGTAAAACTGTA	0.438																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(601-603)taC>taT		citron (rho-interacting, serine/threonine kinase 21)							129.0	111.0	117.0					12																	120271946		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120271946G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.603C>T	12.37:g.120271946G>A						CIT_ENST00000261833.7_Silent_p.Y201Y	p.Y201Y	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	6	658	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	201			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.603C>T	CCDS9192.1																																																																																				0.438	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		5	276	0	0	0	1	0	5	276				
ANKAR	150709	broad.mit.edu	37	2	190603299	190603299	+	Silent	SNP	A	A	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190603299A>G	ENST00000520309.1	+	19	3679	c.3591A>G	c.(3589-3591)gtA>gtG	p.V1197V	ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1197						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGATTGTTGTACTGGCTAAAG	0.313																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3589-3591)gtA>gtG		ankyrin and armadillo repeat containing							148.0	149.0	149.0					2																	190603299		2202	4300	6502	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190603299A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3591A>G	2.37:g.190603299A>G						ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V	p.V1197V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		19	3679	+			1197					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3591A>G	CCDS33351.2																																																																																				0.313	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		75	371	0	0	0	1	0	75	371				
PMS1	5378	broad.mit.edu	37	2	190718684	190718684	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190718684A>G	ENST00000441310.2	+	8	1075	c.842A>G	c.(841-843)aAt>aGt	p.N281S	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	281					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CATCATTACAATCTGAAATGC	0.284			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(841-843)aAt>aGt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							73.0	67.0	69.0					2																	190718684		2201	4295	6496	SO:0001583	missense	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190718684A>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.842A>G	2.37:g.190718684A>G	ENSP00000406490:p.Asn281Ser					PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S|PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S	p.N281S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		8	1075	+			281					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.842A>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	4.982	0.182439	0.09495	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	T;T;D;T;T;T;T	0.83335	-1.35;-1.35;-1.71;-1.35;-1.35;-1.35;-1.35	4.6	-0.982	0.10266	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.586689	0.20108	N	0.099081	T	0.61148	0.2324	N	0.11106	0.095	0.25091	N	0.990853	B;B;B;B;B;B;B	0.20368	0.008;0.013;0.025;0.044;0.008;0.027;0.008	B;B;B;B;B;B;B	0.19666	0.026;0.012;0.026;0.022;0.026;0.017;0.026	T	0.48948	-0.8989	10	0.30078	T	0.28	-9.7476	5.5087	0.16868	0.5066:0.2523:0.2411:0.0	.	281;242;242;66;242;281;281	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	S	105;281;105;242;281;105;220;66	ENSP00000406490:N281S;ENSP00000404492:N105S;ENSP00000387125:N242S;ENSP00000401064:N281S;ENSP00000398378:N105S;ENSP00000389938:N220S;ENSP00000387169:N66S	ENSP00000376149:N105S	N	+	2	0	PMS1	190426929	0.457000	0.25752	0.992000	0.48379	0.986000	0.74619	0.421000	0.21280	0.038000	0.15604	0.455000	0.32223	AAT		0.284	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			102	460	0	0	0	1	0	102	460				
TRAF5	7188	broad.mit.edu	37	1	211534067	211534067	+	Silent	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:211534067T>C	ENST00000261464.5	+	6	621	c.567T>C	c.(565-567)ccT>ccC	p.P189P	TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000462410.1_3'UTR	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ACTTGTGTCCTGAATACCCAG	0.373																																						ENST00000261464.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(565-567)ccT>ccC		TNF receptor-associated factor 5							114.0	103.0	107.0					1																	211534067		2203	4300	6503	SO:0001819	synonymous_variant	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211534067T>C	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.567T>C	1.37:g.211534067T>C						TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.P189P	p.P189P	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	6	621	+			189					B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	ENST00000261464.5	37	c.567T>C	CCDS1497.1																																																																																				0.373	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		6	581	0	0	0	1	0	6	581				
SLC13A5	284111	broad.mit.edu	37	17	6599137	6599137	+	Silent	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:6599137G>T	ENST00000433363.2	-	7	1196	c.963C>A	c.(961-963)atC>atA	p.I321I	SLC13A5_ENST00000573648.1_Silent_p.I321I|SLC13A5_ENST00000381074.4_Silent_p.I278I|SLC13A5_ENST00000293800.6_Silent_p.I304I	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	321					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGAAGAAGCAGATCAGCACGT	0.587																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(961-963)atC>atA		solute carrier family 13 (sodium-dependent citrate transporter), member 5							143.0	142.0	142.0					17																	6599137		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6599137G>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.963C>A	17.37:g.6599137G>T						SLC13A5_ENST00000573648.1_Silent_p.I321I|SLC13A5_ENST00000293800.6_Silent_p.I304I|SLC13A5_ENST00000381074.4_Silent_p.I278I	p.I321I	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			7	1196	-			321					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.963C>A	CCDS11079.1																																																																																				0.587	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		11	574	1	0	0.000978159	1	0.00100849	11	574				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	610	0	0	0	1	0	6	610				
TCERG1	10915	broad.mit.edu	37	5	145838683	145838683	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:145838683C>T	ENST00000296702.5	+	4	713	c.675C>T	c.(673-675)gcC>gcT	p.A225A	TCERG1_ENST00000394421.2_Silent_p.A225A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	225	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aagcccaagcccaggcccagg	0.701																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(673-675)gcC>gcT		transcription elongation regulator 1							16.0	21.0	20.0					5																	145838683		2202	4300	6502	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838683C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.675C>T	5.37:g.145838683C>T						TCERG1_ENST00000394421.2_Silent_p.A225A	p.A225A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	713	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	225			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.675C>T	CCDS4282.1																																																																																				0.701	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		50	115	0	0	0	1	0	50	115				
ANKRD28	23243	broad.mit.edu	37	3	15752737	15752737	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:15752737G>A	ENST00000399451.2	-	12	1595	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.H443Y	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	410						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCAGCTGCATGTAGACAAGTC	0.313																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1228-1230)Cat>Tat		ankyrin repeat domain 28							65.0	65.0	65.0					3																	15752737		1820	4082	5902	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15752737G>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1228C>T	3.37:g.15752737G>A	ENSP00000382379:p.His410Tyr					ANKRD28_ENST00000383777.1_Missense_Mutation_p.H443Y|ANKRD28_ENST00000497037.1_5'UTR	p.H410Y	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			12	1595	-			410					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1228C>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799957	0.90538	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.71222	-0.55;-0.55;-0.55	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.995	D	0.86664	0.1906	10	0.51188	T	0.08	.	19.584	0.95484	0.0:0.0:1.0:0.0	.	443;440;410	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	Y	410;443;410	ENSP00000382379:H410Y;ENSP00000373287:H443Y;ENSP00000397341:H410Y	ENSP00000373287:H443Y	H	-	1	0	ANKRD28	15727741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.779000	0.99018	2.698000	0.92095	0.655000	0.94253	CAT		0.313	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		5	209	0	0	0	1	0	5	209				
HHATL	57467	broad.mit.edu	37	3	42739123	42739123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:42739123G>A	ENST00000441594.1	-	7	1003	c.742C>T	c.(742-744)Cga>Tga	p.R248*	HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248*	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	248					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCTGGGCTCGGATGTGCCAC	0.617																																						ENST00000441594.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19						c.(742-744)Cga>Tga		hedgehog acyltransferase-like							103.0	93.0	96.0					3																	42739123		2203	4300	6503	SO:0001587	stop_gained	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42739123G>A	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.742C>T	3.37:g.42739123G>A	ENSP00000405423:p.Arg248*					HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248*	p.R248*	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	7	1003	-			248					Q8TBG3|Q9ULP7	Nonsense_Mutation	SNP	ENST00000441594.1	37	c.742C>T	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	g	36	5.690128	0.96793	.	.	ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000341477;ENST00000457462	.	.	.	4.99	4.09	0.47781	.	0.410133	0.27622	N	0.018551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-11.3238	14.236	0.65927	0.0:0.0:0.8496:0.1504	.	.	.	.	X	248;248;157;183	.	ENSP00000310621:R248X	R	-	1	2	HHATL	42714127	0.983000	0.35010	0.973000	0.42090	0.737000	0.42083	2.510000	0.45468	1.271000	0.44313	0.558000	0.71614	CGA		0.617	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		5	288	0	0	0	1	0	5	288				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		8	228	0	0	0	1	0	8	228				
BOC	91653	broad.mit.edu	37	3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000355385.3_Missense_Mutation_p.P1062S|BOC_ENST00000273395.4_Missense_Mutation_p.P1063S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCCTTGTGCCAGTTGAAGA	0.577																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3184-3186)Cca>Tca		BOC cell adhesion associated, oncogene regulated							167.0	180.0	176.0					3																	113005548		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113005548C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3184C>T	3.37:g.113005548C>T	ENSP00000418663:p.Pro1062Ser					BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S	p.P1062S			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		20	3888	+			1062					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.3184C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640112	0.87760	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008	T;T;T	0.72615	-0.67;-0.66;-0.67	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.78534	0.4298	L	0.32530	0.975	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76545	-0.2920	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	879;1063;1062	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	1062;1063;1062;38	ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S	ENSP00000273395:P1063S	P	+	1	0	BOC	114488238	0.996000	0.38824	0.571000	0.28486	0.991000	0.79684	5.038000	0.64177	2.873000	0.98535	0.561000	0.74099	CCA		0.577	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		9	1216	0	0	0	1	0	9	1216				
PRDM11	56981	broad.mit.edu	37	11	45246046	45246046	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:45246046G>A	ENST00000530656.1	+	7	1123	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T|PRDM11_ENST00000263765.4_Missense_Mutation_p.A375T|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	375							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGGATGACGCCTACAGTCA	0.577																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1123-1125)Gcc>Acc		PR domain containing 11							114.0	119.0	117.0					11																	45246046		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246046G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1123G>A	11.37:g.45246046G>A	ENSP00000435976:p.Ala375Thr					CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.A375T|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T	p.A375T			Q9NQV5	PRD11_HUMAN			8	1372	+			375					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1123G>A		.	.	.	.	.	.	.	.	.	.	G	7.057	0.565572	0.13560	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.23950	1.88;1.88;1.89	5.41	1.86	0.25419	.	0.907108	0.09408	N	0.806162	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.33904	-0.9850	10	0.26408	T	0.33	-5.4388	9.0019	0.36088	0.4604:0.0:0.5395:0.0	.	375	Q9NQV5	PRD11_HUMAN	T	375;375;341	ENSP00000263765:A375T;ENSP00000435976:A375T;ENSP00000394314:A341T	ENSP00000263765:A375T	A	+	1	0	PRDM11	45202622	0.000000	0.05858	0.102000	0.21198	0.199000	0.23934	0.211000	0.17474	0.187000	0.20147	0.558000	0.71614	GCC		0.577	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		125	553	0	0	0	1	0	125	553				
MITF	4286	broad.mit.edu	37	3	69985877	69985877	+	Intron	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:69985877C>T	ENST00000448226.2	+	3	481				MITF_ENST00000394355.2_Intron|MITF_ENST00000394351.3_Silent_p.L2L|MITF_ENST00000314589.5_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000352241.4_Intron|MITF_ENST00000531774.1_Silent_p.L2L|MITF_ENST00000314557.6_Silent_p.L2L|MITF_ENST00000328528.6_Intron|MITF_ENST00000472437.1_Intron			O75030	MITF_HUMAN	microphthalmia-associated transcription factor						bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CATTGTTATGCTGGAAATGCT	0.348			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000394351.3				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(4-6)Ctg>Ttg		microphthalmia-associated transcription factor							109.0	98.0	102.0					3																	69985877		2203	4300	6503	SO:0001627	intron_variant	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69985877C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.355-1096C>T	3.37:g.69985877C>T						MITF_ENST00000531774.1_Silent_p.L2L|MITF_ENST00000328528.6_Intron|MITF_ENST00000314557.6_Silent_p.L2L|MITF_ENST00000352241.4_Intron|MITF_ENST00000314589.5_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394355.2_Intron|MITF_ENST00000448226.2_Intron|MITF_ENST00000472437.1_Intron	p.L2L	NM_000248.3	NP_000239.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	1	124	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	0					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37	c.4C>T																																																																																					0.348	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		11	185	0	0	0	1	0	11	185				
EHMT1	79813	broad.mit.edu	37	9	140637837	140637837	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr9:140637837G>T	ENST00000460843.1	+	5	865	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	280					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.V249F(2)|p.V280F(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		cttgccttttgttttAGCAGC	0.358																																						ENST00000460843.1																			4	Substitution - Missense(4)	p.V249F(2)|p.V280F(2)	endometrium(4)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(838-840)Gtt>Ttt		euchromatic histone-lysine N-methyltransferase 1							35.0	35.0	35.0					9																	140637837		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140637837G>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.838G>T	9.37:g.140637837G>T	ENSP00000417980:p.Val280Phe					EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000371394.2_3'UTR	p.V280F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	5	865	+	all_cancers(76;0.164)		280					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.838G>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065618	0.55539	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70631	1.61;0.83;-0.5	5.42	5.42	0.78866	.	0.151391	0.42294	D	0.000734	T	0.77552	0.4147	L	0.44542	1.39	0.32618	N	0.523778	P;D;B	0.63880	0.94;0.993;0.302	P;P;B	0.59487	0.564;0.858;0.117	T	0.81955	-0.0696	10	0.56958	D	0.05	.	17.9855	0.89154	0.0:0.0:1.0:0.0	.	280;249;280	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	F	249;249;280;280	ENSP00000334476:V249F;ENSP00000417328:V280F;ENSP00000417980:V280F	ENSP00000334476:V249F	V	+	1	0	EHMT1	139757658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.547000	0.36190	2.539000	0.85634	0.561000	0.74099	GTT		0.358	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		16	121	1	0	1.96292e-10	1	2.08855e-10	16	121				
PKD1L1	168507	broad.mit.edu	37	7	47898412	47898412	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:47898412C>T	ENST00000289672.2	-	27	4271	c.4221G>A	c.(4219-4221)ggG>ggA	p.G1407G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1407	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCACAAATGGCCCCGAGAACT	0.478																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4219-4221)ggG>ggA		polycystic kidney disease 1 like 1							89.0	85.0	87.0					7																	47898412		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47898412C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4221G>A	7.37:g.47898412C>T							p.G1407G	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			27	4271	-			1407			REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.4221G>A	CCDS34633.1																																																																																				0.478	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		5	333	0	0	0	1	0	5	333				
TMX2	51075	broad.mit.edu	37	11	57506679	57506679	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:57506679C>T	ENST00000278422.4	+	7	703	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank|RP11-691N7.6_ENST00000531074.1_5'Flank|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.R193W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	231	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAGGCAATGCGGCGGCCACA	0.547																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(691-693)Cgg>Tgg		thioredoxin-related transmembrane protein 2							125.0	114.0	118.0					11																	57506679		2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506679C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.691C>T	11.37:g.57506679C>T	ENSP00000278422:p.Arg231Trp					TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|TMX2-CTNND1_ENST00000528395.1_Intron	p.R231W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			7	703	+			231			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.691C>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802031	0.70682	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.28666	1.6;1.6	5.49	4.55	0.56014	Thioredoxin-like fold (3);	0.067156	0.56097	U	0.000038	T	0.62245	0.2412	M	0.91354	3.2	0.80722	D	1	P;D	0.89917	0.927;1.0	P;D	0.97110	0.504;1.0	T	0.70288	-0.4913	9	.	.	.	-13.4074	13.1262	0.59356	0.2872:0.7128:0.0:0.0	.	193;231	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	193;231	ENSP00000367562:R193W;ENSP00000278422:R231W	.	R	+	1	2	TMX2	57263255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.049000	0.49869	2.583000	0.87209	0.561000	0.74099	CGG		0.547	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		6	547	0	0	0	1	0	6	547				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	159	0	0	0	1	0	4	159				
CTTN	2017	broad.mit.edu	37	11	70281225	70281225	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:70281225G>A	ENST00000301843.8	+	18	1816	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q|CTTN_ENST00000376561.3_Splice_Site_p.R500H|CTTN_ENST00000538675.1_Splice_Site_p.R221H	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	537	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGCAAGGGCCGGTACGGGCTC	0.627																																						ENST00000301843.8																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1609-1611)cGg>cAg		cortactin							57.0	52.0	53.0					11																	70281225		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70281225G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1610G>A	11.37:g.70281225G>A	ENSP00000301843:p.Arg537Gln					CTTN_ENST00000376561.3_Splice_Site_p.R500_splice|CTTN_ENST00000538675.1_Splice_Site_p.R221_splice|CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q	p.R537Q	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	18	1816	+			537			SH3.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.1610G>A	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.74|16.74	3.205660|3.205660	0.58234|0.58234	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000376561;ENST00000538675;ENST00000529736|ENST00000346329;ENST00000301843	T;T;T|T;T	0.50813|0.50277	0.73;0.73;0.73|0.75;0.75	5.82|5.82	3.95|3.95	0.45737|0.45737	.|Src homology-3 domain (5);	1.245650|1.245650	0.05460|0.05460	N|N	0.551019|0.551019	T|T	0.42471|0.42471	0.1204|0.1204	L|L	0.31526|0.31526	0.94|0.94	0.09310|0.09310	N|N	0.999994|0.999994	D;D|P;P	0.89917|0.49961	1.0;0.977|0.754;0.93	D;P|B;B	0.87578|0.44108	0.998;0.616|0.319;0.441	T|T	0.28933|0.28933	-1.0028|-1.0028	10|10	0.11794|0.29301	T|T	0.64|0.29	-8.3826|-8.3826	11.1574|11.1574	0.48495|0.48495	0.0662:0.0:0.8053:0.1285|0.0662:0.0:0.8053:0.1285	.|.	221;500|500;537	B4E358;Q8N707|Q96H99;Q14247	.;.|.;SRC8_HUMAN	H|Q	500;221;194|500;537	ENSP00000365745:R500H;ENSP00000439762:R221H;ENSP00000431421:R194H|ENSP00000317189:R500Q;ENSP00000301843:R537Q	ENSP00000365745:R500H|ENSP00000301843:R537Q	R|R	+|+	2|2	0|0	CTTN|CTTN	69958873|69958873	0.727000|0.727000	0.28069|0.28069	0.902000|0.902000	0.35471|0.35471	0.332000|0.332000	0.28634|0.28634	3.921000|3.921000	0.56454|0.56454	0.794000|0.794000	0.33899|0.33899	0.655000|0.655000	0.94253|0.94253	CGC|CGG		0.627	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		10	284	0	0	0	1	0	10	284				
SNTG2	54221	broad.mit.edu	37	2	1204809	1204809	+	Silent	SNP	G	G	A	rs201438117	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:1204809G>A	ENST00000308624.5	+	9	741	c.612G>A	c.(610-612)tcG>tcA	p.S204S	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Silent_p.S77S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	204					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.S204S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CACCTTCCTCGCCCATAGCTA	0.582													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17598	0.0		0.0	False		,,,				2504	0.0					ENST00000308624.5																			2	Substitution - coding silent(2)	p.S204S(2)	large_intestine(1)|pancreas(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(610-612)tcG>tcA		syntrophin, gamma 2		G		8,4140		0,8,2066	78.0	85.0	83.0		612	2.1	1.0	2		83	1,8439		0,1,4219	no	coding-synonymous	SNTG2	NM_018968.3		0,9,6285	AA,AG,GG		0.0118,0.1929,0.0715		204/540	1204809	9,12579	2074	4220	6294	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1204809G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.612G>A	2.37:g.1204809G>A						SNTG2_ENST00000407292.1_Silent_p.S77S|SNTG2_ENST00000467759.1_3'UTR	p.S204S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	9	741	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	204					Q05AH5	Silent	SNP	ENST00000308624.5	37	c.612G>A	CCDS46220.1																																																																																				0.582	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		79	315	0	0	0	1	0	79	315				
ADCY9	115	broad.mit.edu	37	16	4016559	4016559	+	Silent	SNP	G	G	A	rs551214944		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:4016559G>A	ENST00000294016.3	-	11	3817	c.3279C>T	c.(3277-3279)gaC>gaT	p.D1093D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1093	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTAGGAGCTCGTCAAAGTCCC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19311	0.001		0.0	False		,,,				2504	0.0					ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3277-3279)gaC>gaT		adenylate cyclase 9							99.0	97.0	98.0					16																	4016559		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016559G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3279C>T	16.37:g.4016559G>A							p.D1093D	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	3817	-			1093			Guanylate cyclase 2.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.3279C>T	CCDS32382.1																																																																																				0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			6	639	0	0	0	1	0	6	639				
ADCY8	114	broad.mit.edu	37	8	131916097	131916097	+	Missense_Mutation	SNP	C	C	T	rs386730061|rs557075212	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:131916097C>T	ENST00000286355.5	-	7	3924	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	611					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTGTTTCTCCGGTCTGAGGA	0.478										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1831-1833)cGg>cAg		adenylate cyclase 8 (brain)							104.0	93.0	97.0					8																	131916097		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916097C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1832G>A	8.37:g.131916097C>T	ENSP00000286355:p.Arg611Gln	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q	p.R611Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	3924	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		611						Missense_Mutation	SNP	ENST00000286355.5	37	c.1832G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	c	15.47	2.843171	0.51057	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.81247	-1.34;-1.37;-1.47	6.17	3.43	0.39272	.	0.333655	0.37136	N	0.002223	T	0.71685	0.3369	L	0.55213	1.73	0.22292	N	0.999227	B;B	0.14012	0.004;0.009	B;B	0.08055	0.002;0.003	T	0.54282	-0.8317	10	0.15952	T	0.53	.	8.9319	0.35675	0.0:0.743:0.1241:0.1329	.	611;611	E7EVL1;P40145	.;ADCY8_HUMAN	Q	611;611;226	ENSP00000286355:R611Q;ENSP00000367161:R611Q;ENSP00000428010:R226Q	ENSP00000286355:R611Q	R	-	2	0	ADCY8	131985279	1.000000	0.71417	0.984000	0.44739	0.292000	0.27327	1.969000	0.40510	0.945000	0.37605	-0.119000	0.15052	CGG		0.478	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			47	294	0	0	0	1	0	47	294				
CYP2J2	1573	broad.mit.edu	37	1	60359407	60359407	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:60359407G>T	ENST00000371204.3	-	9	1468	c.1425C>A	c.(1423-1425)aaC>aaA	p.N475K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	475					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GCTTCTCATTGTTTGGGGGCC	0.463																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(1423-1425)aaC>aaA		cytochrome P450, family 2, subfamily J, polypeptide 2							211.0	229.0	223.0					1																	60359407		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60359407G>T	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1425C>A	1.37:g.60359407G>T	ENSP00000360247:p.Asn475Lys					CYP2J2_ENST00000492633.1_5'UTR	p.N475K	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			9	1468	-	all_cancers(7;0.000396)		475					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.1425C>A	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	4.196	0.034984	0.08101	.	.	ENSG00000134716	ENST00000371204	T	0.66460	-0.21	5.77	0.0605	0.14336	.	1.795700	0.02607	N	0.101724	T	0.37320	0.0999	N	0.05306	-0.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	10	0.05959	T	0.93	.	1.0313	0.01539	0.1662:0.2556:0.2891:0.2891	.	475	P51589	CP2J2_HUMAN	K	475	ENSP00000360247:N475K	ENSP00000360247:N475K	N	-	3	2	CYP2J2	60131995	0.000000	0.05858	0.042000	0.18584	0.879000	0.50718	-0.027000	0.12371	0.309000	0.22966	0.655000	0.94253	AAC		0.463	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		24	1446	1	0	2.27111e-07	1	2.39728e-07	24	1446				
TUBB8P7	197331	broad.mit.edu	37	16	90161753	90161753	+	RNA	SNP	T	T	C	rs6500470	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:90161753T>C	ENST00000564451.1	+	0	1106				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CAGACAGGATTATAAACACAT	0.562													.|||	1448	0.289137	0.6051	0.232	5008	,	,		18052	0.002		0.335	False		,,,				2504	0.1513					ENST00000564451.1																			0																																																			0							g.chr16:90161753T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161753T>C						TUBB8P7_ENST00000567960.1_RNA								0	1106	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.562	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	233	0	0	0	1	0	8	233				
ZNF181	339318	broad.mit.edu	37	19	35232753	35232753	+	Silent	SNP	T	T	C	rs201356205	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35232753T>C	ENST00000492450.1	+	4	1556	c.1467T>C	c.(1465-1467)taT>taC	p.Y489Y	ZNF181_ENST00000392232.3_Silent_p.Y533Y|ZNF181_ENST00000459757.2_Silent_p.Y488Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGAAACCTTATGAATGTATTA	0.388													t|||	10	0.00199681	0.0	0.0	5008	,	,		21281	0.005		0.0	False		,,,				2504	0.0051					ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1597-1599)taT>taC		zinc finger protein 181							54.0	57.0	56.0					19																	35232753		2203	4300	6503	SO:0001819	synonymous_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232753T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1467T>C	19.37:g.35232753T>C						ZNF181_ENST00000492450.1_Silent_p.Y489Y|ZNF181_ENST00000459757.1_Silent_p.Y488Y	p.Y533Y			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1767	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		489					B7ZKX3|Q49A75	Silent	SNP	ENST00000492450.1	37	c.1599T>C	CCDS32990.2																																																																																				0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		9	566	0	0	0	1	0	9	566				
IFI44L	10964	broad.mit.edu	37	1	79093845	79093845	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:79093845C>T	ENST00000370751.5	+	2	424	c.245C>T	c.(244-246)tCc>tTc	p.S82F	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	82					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCAAATGATTCCCTATGGTTT	0.313																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(244-246)tCc>tTc		interferon-induced protein 44-like							54.0	58.0	57.0					1																	79093845		2202	4298	6500	SO:0001583	missense	10964					cytoplasm		g.chr1:79093845C>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.245C>T	1.37:g.79093845C>T	ENSP00000359787:p.Ser82Phe					IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	p.S82F	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			2	424	+			82					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.245C>T	CCDS687.2	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000516	0.35320	.	.	ENSG00000137959	ENST00000452835;ENST00000370751;ENST00000450498	T;T;T	0.35973	1.28;3.08;2.49	2.89	1.97	0.26223	.	0.239768	0.34652	N	0.003789	T	0.10208	0.0250	L	0.34521	1.04	0.21184	N	0.999769	B	0.28552	0.215	B	0.28916	0.096	T	0.13098	-1.0522	10	0.54805	T	0.06	-4.5215	5.0216	0.14363	0.0:0.7217:0.0:0.2783	.	82	Q53G44	IF44L_HUMAN	F	82;82;59	ENSP00000409914:S82F;ENSP00000359787:S82F;ENSP00000400784:S59F	ENSP00000359787:S82F	S	+	2	0	IFI44L	78866433	0.000000	0.05858	0.010000	0.14722	0.106000	0.19336	0.018000	0.13422	0.793000	0.33875	0.411000	0.27672	TCC		0.313	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		11	278	0	0	0	1	0	11	278				
FAM92A1P2	403315	broad.mit.edu	37	4	183958909	183958909	+	RNA	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:183958909C>T	ENST00000502308.1	+	0	92					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		CCTGGTTGTGCGCCAGGCAAG	0.572																																						ENST00000502308.1																			0																																																			0							g.chr4:183958909C>T	BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183958909C>T								NR_003612.1						0	92	+									RNA	SNP	ENST00000502308.1	37																																																																																						0.572	FAM92A1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361814.1			4	21	0	0	0	1	0	4	21				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>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.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	175	0	0	0	1	0	4	175				
SLC22A11	55867	broad.mit.edu	37	11	64329557	64329557	+	Missense_Mutation	SNP	C	C	A	rs554874803		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:64329557C>A	ENST00000301891.4	+	3	953	c.579C>A	c.(577-579)ttC>ttA	p.F193L	SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	193					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCCCAACATTCGTCATCTACT	0.617											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(577-579)ttC>ttA		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						61.0	55.0	57.0					11																	64329557		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64329557C>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.579C>A	11.37:g.64329557C>A	ENSP00000301891:p.Phe193Leu		OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L	p.F193L	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			3	953	+			193					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.579C>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.419179	0.25552	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.58358	0.34;0.34;0.34	3.29	1.38	0.22167	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.058354	0.64402	N	0.000002	T	0.47303	0.1438	L	0.45422	1.42	0.09310	N	1	P;P;P	0.51933	0.949;0.484;0.861	P;B;B	0.49140	0.601;0.315;0.446	T	0.36817	-0.9732	10	0.45353	T	0.12	.	8.0924	0.30807	0.0:0.7887:0.0:0.2113	.	193;193;193	Q9NSA0-2;A6NCG2;Q9NSA0	.;.;S22AB_HUMAN	L	193	ENSP00000301891:F193L;ENSP00000366809:F193L;ENSP00000366804:F193L	ENSP00000301891:F193L	F	+	3	2	SLC22A11	64086133	0.056000	0.20664	0.001000	0.08648	0.000000	0.00434	0.659000	0.24994	0.214000	0.20742	-1.547000	0.00903	TTC		0.617	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		56	228	1	0	5.73376e-24	1	6.25074e-24	56	228				
VTCN1	79679	broad.mit.edu	37	1	117699284	117699284	+	Silent	SNP	G	G	A	rs202083832		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:117699284G>A	ENST00000369458.3	-	3	435	c.357C>T	c.(355-357)aaC>aaT	p.N119N	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Silent_p.N122N|VTCN1_ENST00000539893.1_Silent_p.N24N	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGAGTTGCACGTTTTTCAGCC	0.453																																						ENST00000369458.3																			0				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(355-357)aaC>aaT		V-set domain containing T cell activation inhibitor 1		G		0,4406		0,0,2203	93.0	91.0	91.0		357	-3.5	0.9	1		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VTCN1	NM_024626.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		119/283	117699284	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79679					integral to membrane|plasma membrane		g.chr1:117699284G>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.357C>T	1.37:g.117699284G>A						VTCN1_ENST00000539893.1_Silent_p.N24N|VTCN1_ENST00000359008.4_Silent_p.N122N|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR	p.N119N	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	435	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	119			Ig-like V-type 1.			Silent	SNP	ENST00000369458.3	37	c.357C>T	CCDS894.1																																																																																				0.453	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		6	397	0	0	0	1	0	6	397				
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:39305619G>T	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	134	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S134Y(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637																																						ENST00000343246.4																			2	Substitution - Missense(2)	p.S134Y(2)	lung(1)|central_nervous_system(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(400-402)tCt>tAt		keratin associated protein 4-5							22.0	21.0	22.0					17																	39305619		2194	4283	6477	SO:0001583	missense	85289					keratin filament		g.chr17:39305619G>T	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.401C>A	17.37:g.39305619G>T	ENSP00000340546:p.Ser134Tyr						p.S134Y	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	435	-		Breast(137;0.000496)	139			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.401C>A	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	7.535	0.659572	0.14645	.	.	ENSG00000198271	ENST00000343246	T	0.01446	4.88	3.31	-2.73	0.05950	.	0.818375	0.09819	U	0.751710	T	0.08626	0.0214	M	0.94021	3.485	0.09310	N	1	P	0.48998	0.918	P	0.49853	0.624	T	0.17531	-1.0366	10	0.52906	T	0.07	.	14.3902	0.66973	0.0:0.5611:0.4389:0.0	.	139	Q9BYR2	KRA45_HUMAN	Y	134	ENSP00000340546:S134Y	ENSP00000340546:S134Y	S	-	2	0	KRTAP4-5	36559145	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.079000	0.03410	-0.156000	0.11079	0.563000	0.77884	TCT		0.637	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			5	122	1	0	0.0215528	1	0.0218818	5	122				
IL12RB2	3595	broad.mit.edu	37	1	67861733	67861733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:67861733delG	ENST00000262345.1	+	16	3190	c.2550delG	c.(2548-2550)ctgfs	p.L850fs	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.L764fs	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	850					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AGCTGACTCTGGATCAGTTAA	0.512																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(2548-2550)ctfs		interleukin 12 receptor, beta 2							281.0	270.0	274.0					1																	67861733		2203	4300	6503	SO:0001589	frameshift_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861733delG	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2550delG	1.37:g.67861733delG	ENSP00000262345:p.Leu850fs					IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.L764fs|IL12RB2_ENST00000371000.1_3'UTR	p.L850fs	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			16	3190	+			850					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Frame_Shift_Del	DEL	ENST00000262345.1	37	c.2550delG	CCDS638.1																																																																																				0.512	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		7	2062						7	2062	---	---	---	---
SLC44A3	126969	broad.mit.edu	37	1	95357932	95357932	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:95357932delT	ENST00000271227.6	+	14	1818	c.1716delT	c.(1714-1716)gctfs	p.A572fs	SLC44A3_ENST00000529450.1_Frame_Shift_Del_p.A539fs|SLC44A3_ENST00000527077.1_Frame_Shift_Del_p.A504fs|SLC44A3_ENST00000532427.1_Frame_Shift_Del_p.A492fs|SLC44A3_ENST00000446120.2_Frame_Shift_Del_p.A536fs|SLC44A3_ENST00000467909.1_Frame_Shift_Del_p.A524fs	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	572					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F526fs*4(1)|p.A575fs*7(1)|p.A527fs*7(1)|p.F574fs*4(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TATTGGTAGCTTTTTTTGCCT	0.423																																						ENST00000271227.6																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.F526fs*4(1)|p.A575fs*7(1)|p.A527fs*7(1)|p.F574fs*4(1)	large_intestine(4)	breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1714-1716)gcfs		solute carrier family 44, member 3	Choline(DB00122)						291.0	283.0	286.0					1																	95357932		2203	4300	6503	SO:0001589	frameshift_variant	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95357932delT	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1716delT	1.37:g.95357932delT	ENSP00000271227:p.Ala572fs					SLC44A3_ENST00000446120.2_Frame_Shift_Del_p.A536fs|SLC44A3_ENST00000532427.1_Frame_Shift_Del_p.A492fs|SLC44A3_ENST00000467909.1_Frame_Shift_Del_p.A524fs|SLC44A3_ENST00000527077.1_Frame_Shift_Del_p.A504fs|SLC44A3_ENST00000529450.1_Frame_Shift_Del_p.A539fs	p.A572fs	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	14	1818	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	572					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Frame_Shift_Del	DEL	ENST00000271227.6	37	c.1716delT	CCDS44176.1																																																																																				0.423	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		7	1051						7	1051	---	---	---	---
SHC1	6464	broad.mit.edu	37	1	154936379	154936380	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:154936379_154936380insT	ENST00000368445.5	-	12	1865_1866	c.1651_1652insA	c.(1651-1653)agtfs	p.S551fs	SHC1_ENST00000448116.2_Frame_Shift_Ins_p.S552fs|SHC1_ENST00000368450.1_Frame_Shift_Ins_p.S441fs|SHC1_ENST00000606391.1_Frame_Shift_Ins_p.S352fs|SHC1_ENST00000368449.4_Frame_Shift_Ins_p.S322fs|SHC1_ENST00000368453.4_Frame_Shift_Ins_p.S442fs|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368456.1_5'Flank|SHC1_ENST00000490667.1_5'UTR|PYGO2_ENST00000483463.1_5'Flank|PYGO2_ENST00000368457.2_5'Flank	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	551	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGACTGACACTTTCAAAGCGG	0.51																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(1654-1656)tgtfs		SHC (Src homology 2 domain containing) transforming protein 1																																				SO:0001589	frameshift_variant	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154936379_154936380insT	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1652dupA	1.37:g.154936382_154936382dupT	ENSP00000357430:p.Ser551fs					SHC1_ENST00000368450.1_Frame_Shift_Ins_p.C441fs|SHC1_ENST00000368453.4_Frame_Shift_Ins_p.C442fs|SHC1_ENST00000490667.1_5'UTR|SHC1_ENST00000606391.1_Frame_Shift_Ins_p.C352fs|SHC1_ENST00000368445.5_Frame_Shift_Ins_p.C551fs|SHC1_ENST00000368449.4_Frame_Shift_Ins_p.C322fs	p.C552fs	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		12	1874_1875	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		551			SH2.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Frame_Shift_Ins	INS	ENST00000368445.5	37	c.1654_1655insA	CCDS30881.1																																																																																				0.510	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		11	507						11	507	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Splice_Site	DEL	T	T	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:169833511delT	ENST00000367770.1	-	8	1001	c.954delA	c.(952-954)aaa>aa	p.K318fs	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Splice_Site_p.K318fs|SCYL3_ENST00000367772.4_Splice_Site_p.K318fs			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	318					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e9+1		SCY1-like 3 (S. cerevisiae)							92.0	94.0	94.0					1																	169833511		2203	4300	6503	SO:0001630	splice_region_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169833511delT	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.955+1A>-	1.37:g.169833511delT						SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice|SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice	p.K318_splice	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			9	1151	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		318					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Splice_Site	DEL	ENST00000367770.1	37	c.955_splice	CCDS1287.1																																																																																				0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	Frame_Shift_Del	7	884						7	884	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178412040	178412041	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:178412040_178412041insA	ENST00000462775.1	+	6	839_840	c.714_715insA	c.(715-717)aaafs	p.K239fs	RASAL2_ENST00000448150.3_Frame_Shift_Ins_p.K369fs|RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.K387fs	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	239	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGGAAAAAAAGAAAAAAAAGGA	0.406																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1102-1107)aaaaaafs		RAS protein activator like 2																																				SO:0001589	frameshift_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178412040_178412041insA	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.722dupA	1.37:g.178412048_178412048dupA	ENSP00000420558:p.Lys239fs					RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.KK386fs|RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.KK238fs	p.KK368fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			8	1922_1923	+			238			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Frame_Shift_Ins	INS	ENST00000462775.1	37	c.1104_1105insA	CCDS1322.1																																																																																				0.406	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		8	527						8	527	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:207642044delC	ENST00000367058.3	+	3	807	c.618delC	c.(616-618)gtcfs	p.V206fs	CR2_ENST00000367057.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGAGTGCTGTCCCCCCCACAT	0.398																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gtfs		complement component (3d/Epstein Barr virus) receptor 2							243.0	225.0	231.0					1																	207642044		2203	4300	6503	SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642044delC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.618delC	1.37:g.207642044delC	ENSP00000356025:p.Val206fs					CR2_ENST00000367058.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs	p.V206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			3	807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	ENST00000367058.3	37	c.618delC	CCDS1478.1																																																																																				0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		7	1030						7	1030	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89082220	89082223	+	RNA	DEL	TGAT	TGAT	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:89082220_89082223delTGAT	ENST00000393525.3	+	0	474									ankyrin repeat domain 36B pseudogene 2																		TGTGTACATATGATTGATTATGTA	0.328																																						ENST00000393525.3																			0																																																			0							g.chr2:89082220_89082223delTGAT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89082224_89082227delTGAT														0	474	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.328	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			7	222						7	222	---	---	---	---
AC079305.8	0	broad.mit.edu	37	2	178063463	178063463	+	RNA	DEL	T	T	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:178063463delT	ENST00000455416.1	-	0	166																											ATTCAATTGCttttttttttt	0.577																																						ENST00000455416.1																			0																																																			0							g.chr2:178063463delT																													2.37:g.178063463delT														0	166	-									RNA	DEL	ENST00000455416.1	37																																																																																						0.577	AC079305.8-001	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000333896.1			2	4						2	4	---	---	---	---
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	lincRNA	DEL	G	G	-	rs371047928|rs368317583		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463																																						ENST00000448256.1																			0																																																			0							g.chr2:201967218delG																													2.37:g.201967218delG														0	628	+									RNA	DEL	ENST00000448256.1	37																																																																																						0.463	RP11-13J8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347397.1			7	37						7	37	---	---	---	---
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)caafs	p.Q299fs	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(895-897)cafs		cytochrome P450, family 20, subfamily A, polypeptide 1							65.0	72.0	70.0					2																	204150380		2203	4292	6495	SO:0001589	frameshift_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204150380delA	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.896delA	2.37:g.204150380delA	ENSP00000348380:p.Gln299fs					CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs	p.Q299fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			9	1019	+			299					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Frame_Shift_Del	DEL	ENST00000356079.4	37	c.896delA	CCDS2357.1																																																																																				0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		7	553						7	553	---	---	---	---
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)tttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1321-1323)ttfs		ER degradation enhancer, mannosidase alpha-like 1							155.0	149.0	151.0					3																	5248941		2203	4300	6503	SO:0001589	frameshift_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5248941delT	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1321delT	3.37:g.5248941delT	ENSP00000256497:p.Phe442fs					EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	p.F442fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	7	1454	+			442					A8K9C8|B4DXP3	Frame_Shift_Del	DEL	ENST00000256497.4	37	c.1321delT	CCDS33686.1																																																																																				0.463	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		8	353						8	353	---	---	---	---
OR5H15	403274	broad.mit.edu	37	3	97887844	97887844	+	Frame_Shift_Del	DEL	T	T	-	rs377659479	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:97887844delT	ENST00000356526.2	+	1	301	c.301delT	c.(301-303)tttfs	p.F102fs		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CAAGATACAATTTTTTTCCAT	0.383													TTTTTTT|TTTTTTT|TTTTTT|deletion	158	0.0315495	0.0091	0.0231	5008	,	,		23747	0.0238		0.0268	False		,,,				2504	0.0808					ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(301-303)ttfs		olfactory receptor, family 5, subfamily H, member 15				46,4218		0,46,2086	158.0	149.0	152.0			-5.0	0.0	3		155	152,8098		3,146,3976	no	frameshift	OR5H15	NM_001005515.1		3,192,6062	A1A1,A1R,RR		1.8424,1.0788,1.5822			97887844	198,12316	2203	4298	6501	SO:0001589	frameshift_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887844delT		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.301delT	3.37:g.97887844delT	ENSP00000373195:p.Phe102fs						p.F102fs	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	301	+			102						Frame_Shift_Del	DEL	ENST00000356526.2	37	c.301delT	CCDS33799.1																																																																																				0.383	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			7	1377						7	1377	---	---	---	---
SKIL	6498	broad.mit.edu	37	3	170078560	170078561	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:170078560_170078561delTG	ENST00000458537.3	+	1	1150_1151	c.441_442delTG	c.(439-444)actgtgfs	p.V148fs	SKIL_ENST00000426052.2_Frame_Shift_Del_p.V128fs|SKIL_ENST00000259119.4_Frame_Shift_Del_p.V148fs|SKIL_ENST00000413427.2_Frame_Shift_Del_p.V148fs	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	148					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCACTCAGACTGTGTTGGAAGG	0.45																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(439-444)actgfs		SKI-like oncogene																																				SO:0001589	frameshift_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078560_170078561delTG	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.441_442delTG	3.37:g.170078562_170078563delTG	ENSP00000415243:p.Val148fs					SKIL_ENST00000259119.4_Frame_Shift_Del_p.TV147fs|SKIL_ENST00000413427.2_Frame_Shift_Del_p.TV147fs|SKIL_ENST00000426052.2_Frame_Shift_Del_p.TV127fs	p.TV147fs	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1150_1151	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		147					A6NGT1|B4DT50|O00464|P12756|Q07501	Frame_Shift_Del	DEL	ENST00000458537.3	37	c.441_442delTG	CCDS33890.1																																																																																				0.450	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		12	1024						12	1024	---	---	---	---
HGFAC	3083	broad.mit.edu	37	4	3443798	3443800	+	In_Frame_Del	DEL	CTG	CTG	-	rs372137428		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:3443798_3443800delCTG	ENST00000382774.3	+	1	185_187	c.70_72delCTG	c.(70-72)ctgdel	p.L29del	HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	29					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCCTCCTCCTGCTGCTGCTGC	0.714																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(70-72)del		HGF activator				1,155,2800		0,0,1,8,139,1330						2.2	1.0			15	2,247,5979		0,0,2,8,231,2873	no	codingComplex	HGFAC	NM_001528.2		0,0,3,16,370,4203	A1A1,A1A2,A1R,A2A2,A2R,RR		3.9981,5.2774,4.4098				3,402,8779				SO:0001651	inframe_deletion	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443798_3443800delCTG	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.70_72delCTG	4.37:g.3443807_3443809delCTG	ENSP00000372224:p.Leu29del					HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	185_187	+			29					Q14726|Q2M1W7|Q53X47	In_Frame_Del	DEL	ENST00000382774.3	37	c.70_72delCTG	CCDS3369.1																																																																																				0.714	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			12	131						12	131	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		9	360						9	360	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-	rs369776055		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(226-228)del		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71554620_71554622delGAG	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.226_228delGAG	4.37:g.71554629_71554631delGAG	ENSP00000254803:p.Glu81del						p.E81del	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	425_427	+			81			Glu-rich.		Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.226_228delGAG	CCDS3546.1																																																																																				0.567	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		11	174						11	174	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544438	186544439	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:186544438_186544439insT	ENST00000284776.7	-	13	2641_2642	c.2132_2133insA	c.(2131-2133)aatfs	p.N711fs	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Frame_Shift_Ins_p.N711fs|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.N615fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.N811fs|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	711					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGCCGAATTTTTTTTCCT	0.45																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2131-2133)atcfs		sorbin and SH3 domain containing 2																																				SO:0001589	frameshift_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544438_186544439insT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2133dupA	4.37:g.186544446_186544446dupT	ENSP00000284776:p.Asn711fs					SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.I615fs|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.I711fs|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.I811fs|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron	p.I711fs			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2695_2696	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	711					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Ins	INS	ENST00000284776.7	37	c.2132_2133insA	CCDS3845.1																																																																																				0.450	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	1066						7	1066	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A	rs376893532		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		8	179						8	179	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-	rs561786759|rs369060686|rs200684951		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		9	193						9	193	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(523-525)cfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	581_582	-			175					Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		7	323						7	323	---	---	---	---
LRRC73	221424	broad.mit.edu	37	6	43475289	43475291	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:43475289_43475291delTCC	ENST00000372441.1	-	5	1683_1685	c.783_785delGGA	c.(781-786)gaggaa>gaa	p.261_262EE>E		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	261	Poly-Glu.																TCCTGCCACTTCCTCCTCCTCCT	0.631																																						ENST00000372441.1																			0											c.(781-786)gaa>ga		leucine rich repeat containing 73				11,4155		1,9,2073						2.1	1.0			40	52,8132		7,38,4047	no	coding	C6orf154	NM_001012974.1		8,47,6120	A1A1,A1R,RR		0.6354,0.264,0.5101				63,12287				SO:0001651	inframe_deletion	221424							g.chr6:43475289_43475291delTCC		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.783_785delGGA	6.37:g.43475298_43475300delTCC	ENSP00000361518:p.Glu262del						p.EE261del	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			5	1683_1685	-			261			Poly-Glu.			In_Frame_Del	DEL	ENST00000372441.1	37	c.783_785delGGA	CCDS34456.1																																																																																				0.631	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		7	242						7	242	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-	rs568155311		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:146755630_146755632delGAC	ENST00000282753.1	+	8	3518_3520	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000361719.2_In_Frame_Del_p.D1099del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCCGCGGACGACGACGACG	0.65																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3283-3285)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755630_146755632delGAC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3283_3285delGAC	6.37:g.146755639_146755641delGAC	ENSP00000282753:p.Asp1099del					GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del	p.D1099del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3753_3755	+		Ovarian(120;0.0387)	1099			Asp/Glu-rich (acidic).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3283_3285delGAC	CCDS5209.1																																																																																				0.650	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	568						7	568	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134.0	143.0	140.0					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		8	766						8	766	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)agcfs	p.S200fs	WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(598-600)gcfs		Wolf-Hirschhorn syndrome candidate 1-like 1							203.0	182.0	189.0					8																	38205092		2203	4300	6503	SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205092delT	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.598delA	8.37:g.38205092delT	ENSP00000313983:p.Ser200fs					WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs	p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	1115	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	200					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	c.598delA	CCDS43729.1																																																																																				0.378	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		8	1188						8	1188	---	---	---	---
OR1N2	138882	broad.mit.edu	37	9	125315996	125315997	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr9:125315996_125315997insG	ENST00000373688.2	+	1	606_607	c.548_549insG	c.(547-552)gtggctfs	p.A184fs		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGACCCGCGTGGCTTTCTGTG	0.525																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(547-549)ggcfs		olfactory receptor, family 1, subfamily N, member 2																																				SO:0001589	frameshift_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315996_125315997insG		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.550dupG	9.37:g.125315998_125315998dupG	ENSP00000362792:p.Ala184fs						p.G183fs	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	606_607	+			183					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Frame_Shift_Ins	INS	ENST00000373688.2	37	c.548_549insG	CCDS35123.1																																																																																				0.525	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			8	471						8	471	---	---	---	---
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Intron	DEL	C	C	-	rs374298038|rs145729152	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr9:139235482delC	ENST00000440944.1	+	9	1427				GPSM1_ENST00000392945.3_Frame_Shift_Del_p.L413fs	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													?|CCCC|CCC|unsure	747	0.149161	0.0961	0.0793	5008	,	,		14952	0.252		0.1372	False		,,,				2504	0.1769					ENST00000392945.3																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1237-1239)ctfs		G-protein signaling modulator 1			,	494,3628		54,386,1621	12.0	14.0	14.0		,	0.3	0.0	9	dbSNP_134	15	1203,6943		136,931,3006	no	frameshift,intron	GPSM1	NM_015597.4,NM_001145638.1	,	190,1317,4627	A1A1,A1R,RR		14.768,11.9845,13.8327	,	,	139235482	1697,10571	2116	4195	6311	SO:0001627	intron_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139235482delC	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1207+32C>-	9.37:g.139235482delC						GPSM1_ENST00000440944.1_Intron	p.L413fs	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	9	1459	+		Myeloproliferative disorder(178;0.0821)	0			Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Frame_Shift_Del	DEL	ENST00000440944.1	37	c.1239delC	CCDS48055.1																																																																																				0.687	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		14	12						14	12	---	---	---	---
PLA2G12B	84647	broad.mit.edu	37	10	74714396	74714397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr10:74714396_74714397insC	ENST00000373032.3	-	1	139_140	c.47_48insG	c.(46-48)ggtfs	p.G16fs		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	16					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GAGCCAGGCCACCCCCAAGGCT	0.594																																						ENST00000373032.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9						c.(46-48)gggfs		phospholipase A2, group XIIB																																				SO:0001589	frameshift_variant	84647				lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr10:74714396_74714397insC	AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"""phospholipase A2, group XIII"""	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.48dupG	10.37:g.74714401_74714401dupC	ENSP00000362123:p.Gly16fs						p.G16fs	NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN			1	139_140	-	Prostate(51;0.0198)		16					B7ZL23|Q52LB2|Q96Q99	Frame_Shift_Ins	INS	ENST00000373032.3	37	c.47_48insG	CCDS7319.1																																																																																				0.594	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048598.1	NM_032562		7	448						7	448	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396278	118396279	+	RNA	INS	-	-	T	rs376717445|rs534667616|rs11197776	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr10:118396278_118396279insT	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ACAAATTATGGTTTTTTTTTTC	0.426														15	0.00299521	0.0068	0.0	5008	,	,		20911	0.001		0.0	False		,,,				2504	0.0051					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2																																						5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396278_118396279insT	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396288_118396288dupT						PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	INS	ENST00000298771.7	37																																																																																						0.426	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		7	62						7	62	---	---	---	---
TRIM51HP	440041	broad.mit.edu	37	11	55065032	55065032	+	RNA	DEL	T	T	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:55065032delT	ENST00000526016.1	-	0	393					NR_038174.2				tripartite motif-containing 51H, pseudogene																		AAAGACTGCATTTTTTTTTAG	0.398																																						ENST00000526016.1																			0																																																			0							g.chr11:55065032delT			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065032delT								NR_038174.2						0	393	-									RNA	DEL	ENST00000526016.1	37																																																																																						0.398	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			8	415						8	415	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64488704	64488704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr14:64488704delA	ENST00000344113.4	+	37	5694	c.5482delA	c.(5482-5484)aaafs	p.K1829fs	SYNE2_ENST00000358025.3_Frame_Shift_Del_p.K1829fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.K1829fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1829					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTTAATACCAAAAAAAGTGT	0.318																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(5482-5484)aafs		spectrin repeat containing, nuclear envelope 2							90.0	86.0	87.0					14																	64488704		1820	4085	5905	SO:0001589	frameshift_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64488704delA	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5482delA	14.37:g.64488704delA	ENSP00000341781:p.Lys1829fs					SYNE2_ENST00000344113.4_Frame_Shift_Del_p.K1829fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.K1829fs	p.K1829fs	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	37	5712	+			1829					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	ENST00000344113.4	37	c.5482delA	CCDS41963.1																																																																																				0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		9	470						9	470	---	---	---	---
TMED10	10972	broad.mit.edu	37	14	75601711	75601712	+	Splice_Site	INS	-	-	A	rs200389497	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA						RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	8	257						8	257	---	---	---	---
RMDN3	55177	broad.mit.edu	37	15	41029893	41029894	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:41029893_41029894insT	ENST00000260385.6	-	9	2223_2224	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.T386fs			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGCTGTAGCAGTTTTTTTTTCT	0.45																																						ENST00000260385.6																			0											c.(1156-1158)tgcfs		regulator of microtubule dynamics 3																																				SO:0001589	frameshift_variant	55177							g.chr15:41029893_41029894insT	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1157dupA	15.37:g.41029902_41029902dupT	ENSP00000260385:p.Thr386fs					RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR	p.C386fs							9	2223_2224	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Ins	INS	ENST00000260385.6	37	c.1156_1157insA	CCDS10063.1																																																																																				0.450	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		10	381						10	381	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		9	207						9	207	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579321	7579322	+	Frame_Shift_Del	DEL	CA	CA	-	rs587780067		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:7579321_7579322delCA	ENST00000269305.4	-	4	554_555	c.365_366delTG	c.(364-366)gtgfs	p.V122fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs	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	122	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> L (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.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	CCGTGCAAGTCACAGACTTGGC	0.554		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"""		23	Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(2)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)|liver(1)|ovary(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	CM065494	TP53	M		c.(364-366)gfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579321_7579322delCA	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.365_366delTG	17.37:g.7579323_7579324delCA	ENSP00000269305:p.Val122fs	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_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs	p.V122fs	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	497_498	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	122		V -> L (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.365_366delTG	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		66	302						66	302	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772														1448	0.289137	0.0772	0.3199	5008	,	,		6733	0.3968		0.4165	False		,,,				2504	0.3119					ENST00000316249.3																			2	Insertion - In frame(2)	p.P8_G9insG(2)	upper_aerodigestive_tract(2)	breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(22-27)ccgcgg>ccGGCgcgg		potassium voltage-gated channel, subfamily G, member 2																																				SO:0001652	inframe_insertion	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623691_77623692insGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.34_36dupGGC	18.37:g.77623698_77623700dupGGC	ENSP00000315654:p.Gly13dup						p.8_9PR>PAR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	24_25	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	8						In_Frame_Ins	INS	ENST00000316249.3	37	c.24_25insGGC	CCDS12019.1																																																																																				0.772	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		3	5						3	5	---	---	---	---
ZNF552	79818	broad.mit.edu	37	19	58319468	58319468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:58319468delT	ENST00000391701.1	-	3	1333	c.1164delA	c.(1162-1164)aaafs	p.K388fs	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1162-1164)aafs		zinc finger protein 552				4,4260		1,2,2129	147.0	143.0	144.0			2.0	0.0	19		144	2,8252		0,2,4125	no	frameshift	ZNF552	NM_024762.3		1,4,6254	A1A1,A1R,RR		0.0242,0.0938,0.0479			58319468	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319468delT	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1164delA	19.37:g.58319468delT	ENSP00000375582:p.Lys388fs					ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	p.K388fs	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1333	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	388					B3KUE9|Q6P5A6	Frame_Shift_Del	DEL	ENST00000391701.1	37	c.1164delA	CCDS12963.1																																																																																				0.413	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		7	757						7	757	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				9	18						9	18	---	---	---	---
BACE2	25825	broad.mit.edu	37	21	42647459	42647461	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr21:42647459_42647461delCTG	ENST00000330333.6	+	9	1928_1930	c.1465_1467delCTG	c.(1465-1467)ctgdel	p.L492del	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.5_In_Frame_Del_p.L442del|BACE2_ENST00000328735.6_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	492					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTTAATCGTCCTGCTGCTGCTGC	0.567																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1465-1467)del		beta-site APP-cleaving enzyme 2																																				SO:0001651	inframe_deletion	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42647459_42647461delCTG	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1465_1467delCTG	21.37:g.42647468_42647470delCTG	ENSP00000332979:p.Leu492del					BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.4_In_Frame_Del_p.L442del	p.L492del	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			9	1928_1930	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	492					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	In_Frame_Del	DEL	ENST00000330333.6	37	c.1465_1467delCTG	CCDS13668.1																																																																																				0.567	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			7	292						7	292	---	---	---	---
RNF128	79589	broad.mit.edu	37	X	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agtfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(22-24)agfs		ring finger protein 128, E3 ubiquitin protein ligase							70.0	74.0	72.0					X																	105937256		2203	4297	6500	SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937256delT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.24delT	X.37:g.105937256delT	ENSP00000316127:p.Ser8fs						p.S8fs	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	189	+			0					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	ENST00000324342.3	37	c.24delT	CCDS14520.1																																																																																				0.343	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		9	375						9	375	---	---	---	---
CXorf56	63932	broad.mit.edu	37	X	118678401	118678405	+	Frame_Shift_Del	DEL	AAGGT	AAGGT	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:118678401_118678405delAAGGT	ENST00000371594.4	-	4	412_416	c.334_338delACCTT	c.(334-339)accttcfs	p.TF112fs	CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs|CXorf56_ENST00000320339.4_Frame_Shift_Del_p.TF63fs|CXorf56_ENST00000469448.1_5'Flank	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	112										cervix(1)|endometrium(2)|lung(7)	10						ATCCACAATGAAGGTAACAGGAGCA	0.444																																						ENST00000320339.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(187-192)cfs		chromosome X open reading frame 56																																				SO:0001589	frameshift_variant	63932						protein binding	g.chrX:118678401_118678405delAAGGT	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.334_338delACCTT	X.37:g.118678401_118678405delAAGGT	ENSP00000360652:p.Thr112fs					CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs|CXorf56_ENST00000371594.4_Frame_Shift_Del_p.TF112fs|CXorf56_ENST00000476164.1_Frame_Shift_Del_p.TF112fs|CXorf56_ENST00000486230.1_Frame_Shift_Del_p.TF112fs	p.TF63fs	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN			4	458_462	-			112					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Frame_Shift_Del	DEL	ENST00000371594.4	37	c.187_191delACCTT	CCDS14579.1																																																																																				0.444	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		19	850						19	850	---	---	---	---
