#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
SYNE4	163183	broad.mit.edu	37	19	36498048	36498048	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:36498048C>G	ENST00000324444.3	-	3	513	c.402G>C	c.(400-402)caG>caC	p.Q134H	SYNE4_ENST00000340477.5_Intron|ALKBH6_ENST00000495116.2_5'Flank|AC002116.8_ENST00000473572.2_RNA	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	134					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											CCATCCCACTCTGGGCCAATG	0.667																																						ENST00000324444.3																			0											c.(400-402)caG>caC		spectrin repeat containing, nuclear envelope family member 4							13.0	15.0	14.0					19																	36498048		2056	4190	6246	SO:0001583	missense	163183							g.chr19:36498048C>G	BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.402G>C	19.37:g.36498048C>G	ENSP00000316130:p.Gln134His					SYNE4_ENST00000340477.5_Intron	p.Q134H	NM_001039876.1	NP_001034965.1					3	513	-								A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	c.402G>C	CCDS42553.1	.	.	.	.	.	.	.	.	.	.	C	5.761	0.324759	0.10900	.	.	ENSG00000181392	ENST00000324444;ENST00000490730	T;T	0.55234	0.53;0.53	5.11	1.58	0.23477	.	0.374517	0.23176	N	0.051066	T	0.41673	0.1169	L	0.39898	1.24	0.24705	N	0.993237	B;B	0.24258	0.1;0.005	B;B	0.21360	0.034;0.004	T	0.27020	-1.0086	10	0.32370	T	0.25	-30.4354	13.3398	0.60538	0.0:0.5187:0.4813:0.0	.	134;134	D6RAE3;Q8N205	.;SYNE4_HUMAN	H	134	ENSP00000316130:Q134H;ENSP00000422716:Q134H	ENSP00000316130:Q134H	Q	-	3	2	C19orf46	41189888	0.968000	0.33430	0.658000	0.29665	0.040000	0.13550	1.160000	0.31761	0.336000	0.23639	0.561000	0.74099	CAG		0.667	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		3	10	0	0	0	1	0	3	10				
SEPT12	124404	broad.mit.edu	37	16	4833737	4833737	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr16:4833737C>T	ENST00000268231.8	-	6	806	c.543G>A	c.(541-543)caG>caA	p.Q181Q	SEPT12_ENST00000591861.1_5'Flank|SEPT12_ENST00000396693.5_Silent_p.Q135Q	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	181	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GGCACAGCCGCTGCAGGAACT	0.652																																						ENST00000268231.8																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(541-543)caG>caA		septin 12							29.0	34.0	32.0					16																	4833737		2197	4299	6496	SO:0001819	synonymous_variant	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4833737C>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.543G>A	16.37:g.4833737C>T						SEPT12_ENST00000396693.5_Silent_p.Q135Q	p.Q181Q	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			6	806	-			181					Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	ENST00000268231.8	37	c.543G>A	CCDS10522.1																																																																																				0.652	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		31	19	0	0	0	1	0	31	19				
HTR5A	3361	broad.mit.edu	37	7	154863348	154863348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:154863348G>T	ENST00000287907.2	+	1	1315	c.739G>T	c.(739-741)Gag>Tag	p.E247*	HTR5A-AS1_ENST00000543018.1_5'Flank|HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	247					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CGAAGCTGTGGAGGTGGGTAT	0.522																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(739-741)Gag>Tag		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							56.0	55.0	55.0					7																	154863348		2203	4300	6503	SO:0001587	stop_gained	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863348G>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.739G>T	7.37:g.154863348G>T	ENSP00000287907:p.Glu247*						p.E247*	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1315	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	247					Q2M2D2	Nonsense_Mutation	SNP	ENST00000287907.2	37	c.739G>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	42	9.168918	0.99087	.	.	ENSG00000157219	ENST00000287907	.	.	.	5.0	2.1	0.27182	.	1.384350	0.04707	N	0.416984	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	16.0314	0.80579	0.0:0.417:0.583:0.0	.	.	.	.	X	247	.	ENSP00000287907:E247X	E	+	1	0	HTR5A	154494281	1.000000	0.71417	0.988000	0.46212	0.685000	0.39939	3.256000	0.51492	0.245000	0.21373	0.650000	0.86243	GAG		0.522	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		27	25	1	0	1.88708e-17	1	2.15146e-17	27	25				
MCM9	254394	broad.mit.edu	37	6	119252823	119252823	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:119252823C>G	ENST00000316316.6	-	2	352	c.66G>C	c.(64-66)aaG>aaC	p.K22N	MCM9_ENST00000316068.3_Missense_Mutation_p.K22N	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	22					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GAATATCATTCTTATGGTATT	0.373																																						ENST00000316316.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(64-66)aaG>aaC		minichromosome maintenance complex component 9							83.0	75.0	77.0					6																	119252823		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119252823C>G	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.66G>C	6.37:g.119252823C>G	ENSP00000314505:p.Lys22Asn					MCM9_ENST00000316068.3_Missense_Mutation_p.K22N	p.K22N	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	2	352	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	22					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.66G>C	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564442	0.65651	.	.	ENSG00000111877	ENST00000316316;ENST00000316068;ENST00000425154;ENST00000505446	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	5.91	5.04	0.67666	.	.	.	.	.	T	0.02455	0.0075	L	0.56769	1.78	0.31220	N	0.697534	B	0.34015	0.435	B	0.36186	0.219	T	0.43845	-0.9366	9	0.23891	T	0.37	.	9.2418	0.37500	0.0:0.7868:0.0:0.2132	.	22	Q9NXL9-2	.	N	22	ENSP00000314505:K22N;ENSP00000312870:K22N;ENSP00000394776:K22N;ENSP00000426890:K22N	ENSP00000312870:K22N	K	-	3	2	MCM9	119294522	0.973000	0.33851	1.000000	0.80357	0.989000	0.77384	0.310000	0.19356	1.506000	0.48736	0.655000	0.94253	AAG		0.373	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		19	54	0	0	0	1	0	19	54				
C17orf98	388381	broad.mit.edu	37	17	36993426	36993426	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr17:36993426C>T	ENST00000398575.4	-	2	340	c.275G>A	c.(274-276)aGa>aAa	p.R92K		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	92								p.R92I(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GTTGAGGTATCTTTGTCCTTG	0.522																																						ENST00000398575.4																			1	Substitution - Missense(1)	p.R92I(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						c.(274-276)aGa>aAa		chromosome 17 open reading frame 98							202.0	187.0	192.0					17																	36993426		1999	4169	6168	SO:0001583	missense	388381							g.chr17:36993426C>T	AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.275G>A	17.37:g.36993426C>T	ENSP00000381580:p.Arg92Lys						p.R92K	NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN			2	340	-			92						Missense_Mutation	SNP	ENST00000398575.4	37	c.275G>A	CCDS42310.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022182	0.07634	.	.	ENSG00000214556	ENST00000398575	T	0.44881	0.91	5.24	4.27	0.50696	.	0.402258	0.17674	U	0.165875	T	0.33614	0.0869	L	0.51422	1.61	0.29744	N	0.836888	B	0.15930	0.015	B	0.16722	0.016	T	0.29458	-1.0011	10	0.10636	T	0.68	-11.4794	9.87	0.41168	0.0:0.9048:0.0:0.0952	.	92	A8MV24	CQ098_HUMAN	K	92	ENSP00000381580:R92K	ENSP00000381580:R92K	R	-	2	0	C17orf98	34246952	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.802000	0.38853	1.233000	0.43693	0.298000	0.19748	AGA		0.522	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255469.2	NM_001080465		83	39	0	0	0	1	0	83	39				
SNHG14	104472715	broad.mit.edu	37	15	25463917	25463917	+	RNA	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr15:25463917C>A	ENST00000424208.1	+	0	2994				SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-27_ENST00000364430.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TATTTTGGACCTGGGACCTGG	0.577																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25463917C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25463917C>A						SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	2994	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.577	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			53	39	1	0	4.0306e-16	1	4.57318e-16	53	39				
FLNC	2318	broad.mit.edu	37	7	128478368	128478368	+	Silent	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:128478368G>A	ENST00000325888.8	+	7	1356	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	FLNC_ENST00000346177.6_Silent_p.E365E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	365					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTCCCTTTGAGGTGAACGTGG	0.582																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1093-1095)gaG>gaA		filamin C, gamma							141.0	149.0	147.0					7																	128478368		2130	4228	6358	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478368G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1095G>A	7.37:g.128478368G>A						FLNC_ENST00000346177.6_Silent_p.E365E	p.E365E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			7	1356	+			365					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1095G>A	CCDS43644.1																																																																																				0.582	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			29	71	0	0	0	1	0	29	71				
ZNF547	284306	broad.mit.edu	37	19	57883219	57883219	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:57883219C>G	ENST00000282282.3	+	3	244	c.94C>G	c.(94-96)Cag>Gag	p.Q32E	AC003002.4_ENST00000597658.1_Missense_Mutation_p.Q32E	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGATGAGGCTCAGAGATTGCT	0.512																																						ENST00000282282.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12						c.(94-96)Cag>Gag		zinc finger protein 547							388.0	355.0	366.0					19																	57883219		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57883219C>G	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.94C>G	19.37:g.57883219C>G	ENSP00000282282:p.Gln32Glu					AC003002.4_ENST00000597658.1_Missense_Mutation_p.Q32E	p.Q32E	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	244	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	32			KRAB.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.94C>G	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375671	0.42105	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.09073	3.02	2.01	2.01	0.26516	Krueppel-associated box (4);	.	.	.	.	T	0.33702	0.0872	M	0.93763	3.455	0.09310	N	1	D;D	0.76494	0.999;0.979	D;D	0.79108	0.992;0.973	T	0.05666	-1.0871	9	0.87932	D	0	.	7.5401	0.27733	0.0:1.0:0.0:0.0	.	32;32	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	E	32	ENSP00000282282:Q32E	ENSP00000282282:Q32E	Q	+	1	0	ZNF547	62575031	0.936000	0.31750	0.124000	0.21820	0.906000	0.53458	1.893000	0.39758	1.438000	0.47492	0.561000	0.74099	CAG		0.512	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		69	336	0	0	0	1	0	69	336				
QRICH2	84074	broad.mit.edu	37	17	74288358	74288358	+	Missense_Mutation	SNP	A	A	T	rs113162124		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr17:74288358A>T	ENST00000262765.5	-	4	2131	c.1952T>A	c.(1951-1953)gTt>gAt	p.V651D		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	651	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						accacgctgaactgcaccagg	0.542																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1951-1953)gTt>gAt		glutamine rich 2							115.0	101.0	106.0					17																	74288358		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288358A>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1952T>A	17.37:g.74288358A>T	ENSP00000262765:p.Val651Asp						p.V651D	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	2131	-			651			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1952T>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	A	1.241	-0.621382	0.03636	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.19669	2.13	5.07	-10.1	0.00402	.	.	.	.	.	T	0.10852	0.0265	L	0.47716	1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21930	-1.0231	9	0.09843	T	0.71	1.7974	3.0436	0.06146	0.4865:0.0933:0.0953:0.3249	.	651;651	B5MD94;Q9H0J4	.;QRIC2_HUMAN	D	651	ENSP00000262765:V651D	ENSP00000262765:V651D	V	-	2	0	QRICH2	71799953	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.609000	0.00033	-4.189000	0.00066	-4.043000	0.00012	GTT		0.542	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		5	155	0	0	0	1	0	5	155				
MAP4	4134	broad.mit.edu	37	3	47918946	47918946	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:47918946C>T	ENST00000360240.6	-	9	2585	c.2067G>A	c.(2065-2067)ccG>ccA	p.P689P	MAP4_ENST00000420772.2_Silent_p.P512P|MAP4_ENST00000395734.3_Silent_p.P689P|MAP4_ENST00000462206.1_5'UTR|MAP4_ENST00000441748.2_5'UTR|MAP4_ENST00000426837.2_Silent_p.P1834P|MAP4_ENST00000383737.4_Silent_p.P417P|MAP4_ENST00000264724.11_Silent_p.P424P	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	689					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GCTCCTTGTTCGGTGGGGTGG	0.493																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(5500-5502)ccG>ccA		microtubule-associated protein 4							220.0	191.0	201.0					3																	47918946		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47918946C>T		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2067G>A	3.37:g.47918946C>T						MAP4_ENST00000462206.1_5'UTR|MAP4_ENST00000441748.2_5'UTR|MAP4_ENST00000264724.11_Silent_p.P424P|MAP4_ENST00000395734.3_Silent_p.P689P|MAP4_ENST00000360240.6_Silent_p.P689P|MAP4_ENST00000420772.2_Silent_p.P512P|MAP4_ENST00000383737.4_Silent_p.P417P	p.P1834P			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	11	5589	-			689					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.5502G>A	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263308	0.23051	.	.	ENSG00000047849	ENST00000429422	.	.	.	6.17	-3.57	0.04612	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36696	-0.9737	4	.	.	.	-11.9111	2.5801	0.04816	0.0943:0.2314:0.3127:0.3617	.	.	.	.	K	100	.	.	E	-	1	0	MAP4	47893950	0.986000	0.35501	0.989000	0.46669	0.991000	0.79684	-0.042000	0.12063	-0.335000	0.08451	-0.294000	0.09567	GAA		0.493	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		25	19	0	0	0	1	0	25	19				
GRM4	2914	broad.mit.edu	37	6	34003481	34003481	+	Silent	SNP	G	G	A	rs201998156	byFrequency	TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:34003481G>A	ENST00000538487.2	-	9	2849	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Silent_p.I662I|GRM4_ENST00000374177.3_Silent_p.I686I|GRM4_ENST00000374181.4_Silent_p.I802I|GRM4_ENST00000609222.1_Silent_p.I669I|GRM4_ENST00000535756.1_Silent_p.I669I|GRM4_ENST00000544773.2_Silent_p.I633I	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	802					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGAAGATGGGGATGAAGGCCA	0.622													G|||	8	0.00159744	0.0	0.0	5008	,	,		15215	0.0079		0.0	False		,,,				2504	0.0					ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2404-2406)atC>atT		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						80.0	61.0	67.0					6																	34003481		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003481G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2406C>T	6.37:g.34003481G>A						GRM4_ENST00000374177.3_Silent_p.I686I|GRM4_ENST00000535756.1_Silent_p.I669I|GRM4_ENST00000538487.1_Silent_p.I802I|GRM4_ENST00000544773.1_Silent_p.I633I|GRM4_ENST00000545715.1_Silent_p.I494I|GRM4_ENST00000455714.2_Silent_p.I662I	p.I802I	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2575	-			802					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.2406C>T	CCDS4787.1																																																																																				0.622	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			7	26	0	0	0	1	0	7	26				
GSPT1	2935	broad.mit.edu	37	16	11981428	11981428	+	Splice_Site	SNP	A	A	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr16:11981428A>C	ENST00000563468.1	-	5	568	c.542T>G	c.(541-543)cTg>cGg	p.L181R	GSPT1_ENST00000564790.1_5'Flank|GSPT1_ENST00000439887.2_Splice_Site_p.L318R|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000420576.2_Splice_Site_p.L181R|GSPT1_ENST00000434724.2_Splice_Site_p.L319R			P15170	ERF3A_HUMAN	G1 to S phase transition 1	181	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						CTTTCTTACCAGCACAGCCAA	0.393																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.e7+1		G1 to S phase transition 1							118.0	120.0	119.0					16																	11981428		2195	4296	6491	SO:0001630	splice_region_variant	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11981428A>C	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.543+1T>G	16.37:g.11981428A>C						GSPT1_ENST00000563468.1_Splice_Site_p.L181_splice|GSPT1_ENST00000439887.2_Splice_Site_p.L318_splice|GSPT1_ENST00000420576.2_Splice_Site_p.L181_splice|RP11-166B2.8_ENST00000574364.1_RNA	p.L319_splice	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			7	1155	-			181					J3KQG6|Q96GF2	Splice_Site	SNP	ENST00000563468.1	37	c.957_splice	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450353	0.84101	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.77489	-1.1;-1.1;-1.1	5.39	5.39	0.77823	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000004	D	0.93782	0.8012	H	0.99830	4.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96329	0.9242	10	0.87932	D	0	-7.4441	14.2272	0.65868	1.0:0.0:0.0:0.0	.	318;315;181	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	R	319;318;181	ENSP00000398131:L319R;ENSP00000408399:L318R;ENSP00000399539:L181R	ENSP00000399539:L181R	L	-	2	0	GSPT1	11888929	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	8.962000	0.93254	2.030000	0.59900	0.459000	0.35465	CTG		0.393	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094	Missense_Mutation	20	147	0	0	0	1	0	20	147				
PLEKHH2	130271	broad.mit.edu	37	2	43922358	43922358	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:43922358T>C	ENST00000282406.4	+	6	607	c.497T>C	c.(496-498)cTa>cCa	p.L166P		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	166					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGTCAAAACTACAAGGTACA	0.313																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(496-498)cTa>cCa		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							48.0	47.0	47.0					2																	43922358		2198	4298	6496	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43922358T>C	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.497T>C	2.37:g.43922358T>C	ENSP00000282406:p.Leu166Pro						p.L166P	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			6	607	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	166					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.497T>C	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301564	0.81136	.	.	ENSG00000152527	ENST00000282406	T	0.54071	0.59	5.58	5.58	0.84498	.	0.082046	0.50627	D	0.000120	T	0.69602	0.3129	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.95;0.997	T	0.72737	-0.4203	10	0.87932	D	0	-13.4372	15.7573	0.78043	0.0:0.0:0.0:1.0	.	166;166	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	P	166	ENSP00000282406:L166P	ENSP00000282406:L166P	L	+	2	0	PLEKHH2	43775862	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	6.173000	0.71937	2.120000	0.65058	0.477000	0.44152	CTA		0.313	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		75	6	0	0	0	1	0	75	6				
DGKI	9162	broad.mit.edu	37	7	137294343	137294343	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:137294343C>A	ENST00000288490.5	-	9	1006	c.1006G>T	c.(1006-1008)Gct>Tct	p.A336S	DGKI_ENST00000446122.1_Missense_Mutation_p.A336S|DGKI_ENST00000453654.2_Missense_Mutation_p.A36S|DGKI_ENST00000424189.2_Missense_Mutation_p.A336S	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	336					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CGATTTGAAGCCTTCAGGGAG	0.463																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(106-108)Gct>Tct		diacylglycerol kinase, iota							127.0	108.0	114.0					7																	137294343		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137294343C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1006G>T	7.37:g.137294343C>A	ENSP00000288490:p.Ala336Ser					DGKI_ENST00000424189.2_Missense_Mutation_p.A336S|DGKI_ENST00000288490.5_Missense_Mutation_p.A336S|DGKI_ENST00000446122.1_Missense_Mutation_p.A336S	p.A36S			O75912	DGKI_HUMAN			9	645	-			336					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.106G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	9.565	1.119528	0.20877	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.32515	2.01;1.45;1.64	5.61	5.61	0.85477	.	0.105878	0.64402	D	0.000003	T	0.08670	0.0215	N	0.00926	-1.1	0.35943	D	0.83332	B;B	0.15473	0.001;0.013	B;B	0.09377	0.002;0.004	T	0.32295	-0.9912	10	0.08381	T	0.77	.	7.3196	0.26519	0.0:0.7992:0.0:0.2008	.	36;336	E9PFX6;O75912	.;DGKI_HUMAN	S	36;284;336;336;336	ENSP00000392161:A36S;ENSP00000288490:A336S;ENSP00000399131:A336S	ENSP00000288490:A336S	A	-	1	0	DGKI	136944883	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.876000	0.56115	2.657000	0.90304	0.655000	0.94253	GCT		0.463	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		8	46	1	0	0.000673444	1	0.000691012	8	46				
PCDHA12	56137	broad.mit.edu	37	5	140256763	140256763	+	Missense_Mutation	SNP	C	C	T	rs370071106		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr5:140256763C>T	ENST00000398631.2	+	1	1706	c.1706C>T	c.(1705-1707)cCg>cTg	p.P569L	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	569					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCGACTCCGGCTGGCAGC	0.716																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1705-1707)cCg>cTg									157.0	158.0	157.0					5																	140256763		2203	4299	6502	SO:0001583	missense	56137							g.chr5:140256763C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1706C>T	5.37:g.140256763C>T	ENSP00000381628:p.Pro569Leu					PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron	p.P569L	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1706	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1706C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	2.190	-0.385436	0.04966	.	.	ENSG00000251664	ENST00000398631	T	0.55588	0.51	4.38	1.04	0.20106	Cadherin-like (1);	.	.	.	.	T	0.24928	0.0605	N	0.05441	-0.05	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17410	-1.0370	9	0.18710	T	0.47	.	2.8644	0.05596	0.3889:0.2376:0.3735:0.0	.	569;569	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	L	569	ENSP00000381628:P569L	ENSP00000381628:P569L	P	+	2	0	PCDHA12	140236947	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.156000	0.03160	0.319000	0.23209	-1.010000	0.02471	CCG		0.716	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		104	71	0	0	0	1	0	104	71				
PRKAG3	53632	broad.mit.edu	37	2	219689278	219689278	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:219689278G>A	ENST00000529249.1	-	11	1505	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	PRKAG3_ENST00000392098.3_3'UTR|PRKAG3_ENST00000545803.1_Missense_Mutation_p.S213F|PRKAG3_ENST00000439262.2_Missense_Mutation_p.S372F			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	397	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	ATCAAAGCGGGAATAGAGGCC	0.627																																						ENST00000439262.2																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1114-1116)tCc>tTc		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							70.0	66.0	68.0					2																	219689278		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219689278G>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1190C>T	2.37:g.219689278G>A	ENSP00000436068:p.Ser397Phe					PRKAG3_ENST00000392098.3_3'UTR|PRKAG3_ENST00000529249.1_Missense_Mutation_p.S397F|PRKAG3_ENST00000545803.1_Missense_Mutation_p.S213F	p.S372F	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1210	-		Renal(207;0.0474)	397			CBS 3.		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.1115C>T	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764618	0.89932	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.95447	-3.71;-3.71;-3.71	5.26	5.26	0.73747	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.98614	0.9536	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99790	1.1031	10	0.87932	D	0	-23.1965	17.8599	0.88778	0.0:0.0:1.0:0.0	.	397	Q9UGI9	AAKG3_HUMAN	F	372;213;397	ENSP00000397133:S372F;ENSP00000444536:S213F;ENSP00000436068:S397F	ENSP00000233944:S397F	S	-	2	0	PRKAG3	219397522	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.839000	0.92120	2.442000	0.82660	0.655000	0.94253	TCC		0.627	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			41	22	0	0	0	1	0	41	22				
ACAD9	28976	broad.mit.edu	37	3	128628911	128628911	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:128628911C>T	ENST00000308982.7	+	16	1692	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	RP11-723O4.6_ENST00000508239.1_3'UTR|KIAA1257_ENST00000511438.1_3'UTR|ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	537						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAACATCCTCATCAACCTGT	0.632																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1609-1611)ctC>ctT		acyl-CoA dehydrogenase family, member 9							69.0	62.0	65.0					3																	128628911		2203	4300	6503	SO:0001819	synonymous_variant	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128628911C>T	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1611C>T	3.37:g.128628911C>T						ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_3'UTR|KIAA1257_ENST00000511438.1_3'UTR	p.L537L	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN			16	1692	+			537					D3DNB8|Q8WXX3	Silent	SNP	ENST00000308982.7	37	c.1611C>T	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.366037	0.24684	.	.	ENSG00000177646	ENST00000406840	.	.	.	5.46	3.56	0.40772	.	.	.	.	.	T	0.65069	0.2656	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67585	-0.5633	5	0.87932	D	0	.	9.0778	0.36534	0.0:0.686:0.2244:0.0896	.	.	.	.	Y	14	.	ENSP00000384784:H14Y	H	+	1	0	ACAD9	130111601	0.987000	0.35691	1.000000	0.80357	0.976000	0.68499	0.168000	0.16622	1.299000	0.44798	0.563000	0.77884	CAT		0.632	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		9	15	0	0	0	1	0	9	15				
RIOK3	8780	broad.mit.edu	37	18	21043044	21043044	+	Splice_Site	SNP	G	G	A	rs373422920		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr18:21043044G>A	ENST00000339486.3	+	2	796		c.e2+1		RIOK3_ENST00000577501.1_Splice_Site|RIOK3_ENST00000581585.1_Splice_Site	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3						chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGAAGTTGCGTAAGTAAAAT	0.363																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.e2+1		RIO kinase 3		G		1,4405	2.1+/-5.4	0,1,2202	108.0	106.0	107.0			5.7	1.0	18		107	0,8600		0,0,4300	no	splice-5	RIOK3	NM_003831.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			21043044	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21043044G>A	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.179+1G>A	18.37:g.21043044G>A						RIOK3_ENST00000577501.1_Splice_Site|RIOK3_ENST00000581585.1_Splice_Site		NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			2	796	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)							Q8IXN9	Splice_Site	SNP	ENST00000339486.3	37		CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627788	0.66901	2.27E-4	0.0	ENSG00000101782	ENST00000339486	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9283	0.97112	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIOK3	19297042	1.000000	0.71417	0.966000	0.40874	0.708000	0.40852	5.957000	0.70323	2.708000	0.92522	0.585000	0.79938	.		0.363	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831	Intron	20	118	0	0	0	1	0	20	118				
DYNC2H1	79659	broad.mit.edu	37	11	103074410	103074410	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:103074410A>G	ENST00000375735.2	+	51	8360	c.8216A>G	c.(8215-8217)tAt>tGt	p.Y2739C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Y2739C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2739	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTGGACTCTATACTCTTGAA	0.308																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(8215-8217)tAt>tGt		dynein, cytoplasmic 2, heavy chain 1							71.0	64.0	66.0					11																	103074410		1797	4064	5861	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103074410A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8216A>G	11.37:g.103074410A>G	ENSP00000364887:p.Tyr2739Cys					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Y2739C|DYNC2H1_ENST00000334267.7_Intron	p.Y2739C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	51	8360	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2739			AAA 4 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.8216A>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.840329	0.71488	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.51817	0.69;0.69	5.07	5.07	0.68467	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	U	0.000017	T	0.73799	0.3633	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	T	0.80612	-0.1305	10	0.87932	D	0	.	14.8367	0.70190	1.0:0.0:0.0:0.0	.	2739;2739	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	2739	ENSP00000364887:Y2739C;ENSP00000381167:Y2739C	ENSP00000364887:Y2739C	Y	+	2	0	DYNC2H1	102579620	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	6.977000	0.76141	1.907000	0.55213	0.533000	0.62120	TAT		0.308	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		12	27	0	0	0	1	0	12	27				
MSR1	4481	broad.mit.edu	37	8	16021623	16021623	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr8:16021623C>T	ENST00000262101.5	-	5	889	c.768G>A	c.(766-768)ctG>ctA	p.L256L	MSR1_ENST00000355282.2_Silent_p.L256L|MSR1_ENST00000445506.2_Silent_p.L274L|MSR1_ENST00000381998.4_Silent_p.L256L|MSR1_ENST00000536385.1_Silent_p.L30L|MSR1_ENST00000350896.3_Silent_p.L256L			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	256					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCCAATCTTTCAGTCTGAGAT	0.313																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(766-768)ctG>ctA		macrophage scavenger receptor 1							172.0	153.0	159.0					8																	16021623		2203	4299	6502	SO:0001819	synonymous_variant	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16021623C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.768G>A	8.37:g.16021623C>T						MSR1_ENST00000262101.5_Silent_p.L256L|MSR1_ENST00000355282.2_Silent_p.L256L|MSR1_ENST00000445506.2_Silent_p.L274L|MSR1_ENST00000536385.1_Silent_p.L30L|MSR1_ENST00000381998.4_Silent_p.L256L	p.L256L	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	5	965	-			256					D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	c.768G>A	CCDS5995.1																																																																																				0.313	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			8	32	0	0	0	1	0	8	32				
ZNF44	51710	broad.mit.edu	37	19	12384756	12384756	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:12384756C>T	ENST00000356109.5	-	5	576	c.458G>A	c.(457-459)aGc>aAc	p.S153N	ZNF44_ENST00000355684.5_Missense_Mutation_p.S105N	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		ATTCACACTGCTTCCACATGC	0.428																																						ENST00000356109.5																			0				ovary(1)	1						c.(457-459)aGc>aAc		zinc finger protein 44							192.0	194.0	193.0					19																	12384756		2172	4289	6461	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384756C>T	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.458G>A	19.37:g.12384756C>T	ENSP00000348419:p.Ser153Asn					ZNF44_ENST00000355684.5_Missense_Mutation_p.S105N	p.S153N	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	576	-		Renal(1328;0.157)	153					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.458G>A	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	9.340	1.062716	0.19987	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.07021	3.29;3.23;3.28	1.28	0.202	0.15190	.	.	.	.	.	T	0.05593	0.0147	N	0.26042	0.785	.	.	.	B;B	0.21452	0.025;0.056	B;B	0.21360	0.017;0.034	T	0.27839	-1.0062	8	0.44086	T	0.13	.	5.17	0.15105	0.0:0.7878:0.0:0.2122	.	153;105	P15621;F8W7T7	ZNF44_HUMAN;.	N	153;153;105;105	ENSP00000377008:S153N;ENSP00000348419:S153N;ENSP00000347910:S105N	ENSP00000347910:S105N	S	-	2	0	ZNF44	12245756	0.000000	0.05858	0.006000	0.13384	0.576000	0.36127	0.046000	0.14035	0.122000	0.18314	0.313000	0.20887	AGC		0.428	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		26	94	0	0	0	1	0	26	94				
WWC1	23286	broad.mit.edu	37	5	167858265	167858265	+	Missense_Mutation	SNP	G	G	A	rs148388652		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr5:167858265G>A	ENST00000265293.4	+	15	2598	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	WWC1_ENST00000521089.1_Missense_Mutation_p.R699H	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	699	C2.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGGAATATCCGCGTGGCTGTC	0.527																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2095-2097)cGc>cAc		WW and C2 domain containing 1		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	67.0	73.0		2096,2096,2096	5.0	0.4	5	dbSNP_134	73	0,8600		0,0,4300	no	missense,missense,missense	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	699/1120,699/1119,699/1114	167858265	1,13005	2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167858265G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2096G>A	5.37:g.167858265G>A	ENSP00000265293:p.Arg699His					WWC1_ENST00000521089.1_Missense_Mutation_p.R699H	p.R699H	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	15	2598	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	699			C2.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2096G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990955	0.74703	2.27E-4	0.0	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.25579	1.79;1.79;1.79	4.99	4.99	0.66335	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.962;0.995;0.994;0.99	T	0.64149	-0.6475	10	0.87932	D	0	.	18.2958	0.90146	0.0:0.0:1.0:0.0	.	699;605;605;699	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	H	699;699;25	ENSP00000265293:R699H;ENSP00000427772:R699H;ENSP00000428084:R25H	ENSP00000265293:R699H	R	+	2	0	WWC1	167790843	1.000000	0.71417	0.403000	0.26384	0.451000	0.32288	8.950000	0.93019	2.315000	0.78130	0.655000	0.94253	CGC		0.527	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		18	50	0	0	0	1	0	18	50				
CATSPERD	257062	broad.mit.edu	37	19	5754141	5754141	+	Splice_Site	SNP	A	A	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:5754141A>G	ENST00000381624.3	+	13	1225		c.e13-1		CATSPERD_ENST00000309164.7_Splice_Site|CATSPERD_ENST00000381614.2_Splice_Site	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CTTTTTAACTAGATAGAGTTT	0.473																																						ENST00000381624.3																			0											c.e13-1		catsper channel auxiliary subunit delta							134.0	136.0	136.0					19																	5754141		1889	4122	6011	SO:0001630	splice_region_variant	257062					integral to membrane		g.chr19:5754141A>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1165-1A>G	19.37:g.5754141A>G						CATSPERD_ENST00000381614.2_Splice_Site|CATSPERD_ENST00000309164.7_Splice_Site		NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			13	1225	+								Q6ZRP1	Splice_Site	SNP	ENST00000381624.3	37		CCDS12149.2	.	.	.	.	.	.	.	.	.	.	A	7.327	0.618161	0.14129	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.49582	D	0.999803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8595	0.35249	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM146	5705141	0.733000	0.28132	0.023000	0.16930	0.002000	0.02628	3.471000	0.53107	1.670000	0.50864	0.448000	0.29417	.		0.473	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	Intron	24	99	0	0	0	1	0	24	99				
GRXCR2	643226	broad.mit.edu	37	5	145239439	145239439	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr5:145239439C>T	ENST00000377976.1	-	3	603	c.604G>A	c.(604-606)Ggg>Agg	p.G202R		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	202						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTGCCCGACCCTCGGCAGTGA	0.557																																						ENST00000377976.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(604-606)Ggg>Agg		glutaredoxin, cysteine rich 2							47.0	45.0	46.0					5																	145239439		2203	4300	6503	SO:0001583	missense	643226							g.chr5:145239439C>T		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.604G>A	5.37:g.145239439C>T	ENSP00000367214:p.Gly202Arg						p.G202R	NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN			3	603	-			202						Missense_Mutation	SNP	ENST00000377976.1	37	c.604G>A	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941458	0.92526	.	.	ENSG00000204928	ENST00000377976	T	0.28666	1.6	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71401	-0.4604	10	0.87932	D	0	-33.3993	19.5469	0.95302	0.0:1.0:0.0:0.0	.	202	A6NFK2	GRCR2_HUMAN	R	202	ENSP00000367214:G202R	ENSP00000367214:G202R	G	-	1	0	GRXCR2	145219632	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.328000	0.79160	2.619000	0.88677	0.561000	0.74099	GGG		0.557	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			7	29	0	0	0	1	0	7	29				
ZNF93	81931	broad.mit.edu	37	19	20045185	20045185	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:20045185T>A	ENST00000343769.5	+	4	1449	c.1421T>A	c.(1420-1422)aTt>aAt	p.I474N	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I474N(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CATAAGAAAATTCATACTGGA	0.363																																						ENST00000343769.5																			1	Substitution - Missense(1)	p.I474N(1)	endometrium(1)	endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(1420-1422)aTt>aAt		zinc finger protein 93							47.0	51.0	50.0					19																	20045185		2196	4279	6475	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20045185T>A	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1421T>A	19.37:g.20045185T>A	ENSP00000342002:p.Ile474Asn					AC007204.2_ENST00000592245.1_lincRNA	p.I474N	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	1449	+			474					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.1421T>A	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	N	6.203	0.405613	0.11754	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.01015	5.44	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	L	0.49513	1.565	0.24015	N	0.996168	P	0.46859	0.885	P	0.57425	0.82	T	0.48019	-0.9071	9	0.87932	D	0	.	2.9159	0.05752	0.0:0.3464:0.0:0.6536	.	474	P35789	ZNF93_HUMAN	N	474;446	ENSP00000342002:I474N	ENSP00000342002:I474N	I	+	2	0	ZNF93	19906185	0.000000	0.05858	0.072000	0.20136	0.071000	0.16799	-0.282000	0.08445	0.166000	0.19597	0.164000	0.16699	ATT		0.363	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		4	139	0	0	0	1	0	4	139				
AK9	221264	broad.mit.edu	37	6	109814728	109814728	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:109814728C>T	ENST00000424296.2	-	41	5656	c.5580G>A	c.(5578-5580)aaG>aaA	p.K1860K	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1860					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										GCTCCATCTTCTTCTTATACT	0.368																																						ENST00000424296.2																			0											c.(5578-5580)aaG>aaA		adenylate kinase 9							131.0	129.0	130.0					6																	109814728		2203	4300	6503	SO:0001819	synonymous_variant	221264							g.chr6:109814728C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5580G>A	6.37:g.109814728C>T						RP5-919F19.5_ENST00000423747.1_RNA	p.K1860K	NM_001145128.2	NP_001138600.2					41	5656	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.5580G>A	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.739|8.739	0.918473|0.918473	0.17982|0.17982	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000490722|ENST00000470564	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|.	.|.	.|.	.|.	T|T	0.54711|0.54711	0.1875|0.1875	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54662|0.54662	-0.8260|-0.8260	4|4	.|.	.|.	.|.	.|.	12.4544|12.4544	0.55695|0.55695	0.0:0.9233:0.0:0.0766|0.0:0.9233:0.0:0.0766	.|.	.|.	.|.	.|.	K|K	261|698	.|.	.|.	E|R	-|-	1|2	0|0	AKD1|AKD1	109921421|109921421	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.392000|3.392000	0.52537|0.52537	2.512000|2.512000	0.84698|0.84698	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.368	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		20	44	0	0	0	1	0	20	44				
EFNB1	1947	broad.mit.edu	37	X	68060417	68060417	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chrX:68060417A>T	ENST00000204961.4	+	5	1741	c.961A>T	c.(961-963)Agt>Tgt	p.S321C		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	321					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TGAGAAGGTGAGTGGGGACTA	0.612																																						ENST00000204961.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(961-963)Agt>Tgt		ephrin-B1							45.0	34.0	37.0					X																	68060417		2203	4300	6503	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060417A>T	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.961A>T	X.37:g.68060417A>T	ENSP00000204961:p.Ser321Cys						p.S321C	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			5	1741	+			321					D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.961A>T	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	a	19.72	3.880208	0.72294	.	.	ENSG00000090776	ENST00000204961	D	0.95035	-3.59	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.96324	0.8801	M	0.67953	2.075	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.96409	0.9303	10	0.66056	D	0.02	-14.8092	11.6021	0.51008	1.0:0.0:0.0:0.0	.	321	P98172	EFNB1_HUMAN	C	321	ENSP00000204961:S321C	ENSP00000204961:S321C	S	+	1	0	EFNB1	67977142	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.078000	0.94023	1.868000	0.54150	0.422000	0.28245	AGT		0.612	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		5	13	0	0	0	1	0	5	13				
IGHG1	3500	broad.mit.edu	37	14	106209287	106209287	+	RNA	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr14:106209287C>T	ENST00000390548.2	-	0	121							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GCCTGAGTTCCACGACACCGT	0.662																																						ENST00000390548.2																			0																				32.0	27.0	28.0					14																	106209287		1918	4087	6005			3500							g.chr14:106209287C>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106209287C>T														0	121	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.662	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		24	8	0	0	0	1	0	24	8				
OR2G6	391211	broad.mit.edu	37	1	248685640	248685640	+	Silent	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:248685640T>C	ENST00000343414.4	+	1	725	c.693T>C	c.(691-693)gcT>gcC	p.A231A		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAAATCAGCTGCGGGCCGCC	0.458																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(691-693)gcT>gcC		olfactory receptor, family 2, subfamily G, member 6							103.0	107.0	105.0					1																	248685640		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685640T>C		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.693T>C	1.37:g.248685640T>C							p.A231A	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	725	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	231					B2RP33	Silent	SNP	ENST00000343414.4	37	c.693T>C	CCDS31119.1																																																																																				0.458	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		4	137	0	0	0	1	0	4	137				
DNASE1L3	1776	broad.mit.edu	37	3	58179051	58179051	+	Intron	SNP	G	G	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:58179051G>C	ENST00000394549.2	-	7	1118				DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000318316.3_Intron|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.L274V	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3						apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GGCATAGAAAGACAAGATGGC	0.413																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(820-822)Ctt>Gtt		deoxyribonuclease I-like 3							85.0	73.0	77.0					3																	58179051		2203	4300	6503	SO:0001627	intron_variant	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58179051G>C	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.801+18C>G	3.37:g.58179051G>C						DNASE1L3_ENST00000394549.2_Intron|DNASE1L3_ENST00000318316.3_Intron|DNASE1L3_ENST00000486455.1_Intron	p.L274V			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	9	1401	-			0					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.820C>G	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189672	0.38707	.	.	ENSG00000163687	ENST00000450710;ENST00000483681	T	0.33216	1.42	5.09	4.22	0.49857	.	.	.	.	.	T	0.15003	0.0362	.	.	.	0.80722	D	1	B	0.30793	0.295	B	0.32211	0.142	T	0.05869	-1.0859	8	0.02654	T	1	.	11.222	0.48860	0.0872:0.0:0.9128:0.0	.	274	E9PES0	.	V	274	ENSP00000417047:L274V	ENSP00000407639:L274V	L	-	1	0	DNASE1L3	58154091	0.283000	0.24277	0.292000	0.24919	0.092000	0.18411	-0.453000	0.06778	1.359000	0.45940	0.655000	0.94253	CTT		0.413	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		14	31	0	0	0	1	0	14	31				
RELN	5649	broad.mit.edu	37	7	103230261	103230261	+	Silent	SNP	A	A	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:103230261A>G	ENST00000428762.1	-	28	4086	c.3927T>C	c.(3925-3927)tgT>tgC	p.C1309C	RELN_ENST00000424685.2_Silent_p.C1309C|RELN_ENST00000343529.5_Silent_p.C1309C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1309					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGATTGGCACAACCTATGT	0.428																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3925-3927)tgT>tgC		reelin							107.0	95.0	99.0					7																	103230261		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103230261A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3927T>C	7.37:g.103230261A>G						RELN_ENST00000343529.5_Silent_p.C1309C|RELN_ENST00000424685.2_Silent_p.C1309C	p.C1309C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	28	4086	-			1309					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3927T>C	CCDS47680.1																																																																																				0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		72	20	0	0	0	1	0	72	20				
BAGE2	85319	broad.mit.edu	37	21	11039314	11039314	+	RNA	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr21:11039314C>T	ENST00000470054.1	-	0	889							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTTTCTGTCACTTCCATTT	0.368																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039314C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039314C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	889	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.368	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	512	0	0	0	1	0	9	512				
TM9SF2	9375	broad.mit.edu	37	13	100153989	100153989	+	Silent	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr13:100153989C>A	ENST00000376387.4	+	1	319	c.129C>A	c.(127-129)ccC>ccA	p.P43P	LINC00449_ENST00000366259.2_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	43					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.P43P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GCCTGGCGCCCGTCAACTTCT	0.657																																						ENST00000376387.4																			1	Substitution - coding silent(1)	p.P43P(1)	endometrium(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(127-129)ccC>ccA		transmembrane 9 superfamily member 2							37.0	42.0	40.0					13																	100153989		2203	4299	6502	SO:0001819	synonymous_variant	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100153989C>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.129C>A	13.37:g.100153989C>A							p.P43P	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			1	319	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		43					A8K399|Q2TAY5	Silent	SNP	ENST00000376387.4	37	c.129C>A	CCDS9493.1																																																																																				0.657	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			19	57	1	0	8.34094e-07	1	8.94755e-07	19	57				
TRIM42	287015	broad.mit.edu	37	3	140409995	140409995	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:140409995C>T	ENST00000286349.3	+	4	2237	c.2046C>T	c.(2044-2046)atC>atT	p.I682I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	682	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTAGAGCCATCAATGATAATG	0.433																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2044-2046)atC>atT		tripartite motif containing 42							150.0	146.0	147.0					3																	140409995		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140409995C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.2046C>T	3.37:g.140409995C>T							p.I682I	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			4	2237	+			682			Fibronectin type-III.		A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.2046C>T	CCDS3113.1																																																																																				0.433	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		29	127	0	0	0	1	0	29	127				
FAM208B	54906	broad.mit.edu	37	10	5782304	5782304	+	Missense_Mutation	SNP	C	C	T	rs56856085		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr10:5782304C>T	ENST00000328090.5	+	13	2796	c.2171C>T	c.(2170-2172)tCt>tTt	p.S724F	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	724			S -> Y (in dbSNP:rs56856085).														CGACCACCGTCTGCCCGTGTG	0.488																																						ENST00000328090.5																			0											c.(2170-2172)tCt>tTt		family with sequence similarity 208, member B							75.0	74.0	74.0					10																	5782304		1935	4128	6063	SO:0001583	missense	54906							g.chr10:5782304C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2171C>T	10.37:g.5782304C>T	ENSP00000328426:p.Ser724Phe					RP11-336A10.2_ENST00000411512.2_RNA	p.S724F	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2796	+			724		S -> Y (in dbSNP:rs56856085).			Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.2171C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554787	0.45487	.	.	ENSG00000108021	ENST00000328090	T	0.05855	3.38	5.64	5.64	0.86602	.	0.423091	0.22881	N	0.054507	T	0.23886	0.0578	M	0.67953	2.075	0.20703	N	0.999867	D	0.76494	0.999	D	0.64042	0.921	T	0.01192	-1.1423	10	0.62326	D	0.03	.	19.2839	0.94063	0.0:1.0:0.0:0.0	.	724	Q5VWN6	F208B_HUMAN	F	724	ENSP00000328426:S724F	ENSP00000328426:S724F	S	+	2	0	C10orf18	5822310	0.143000	0.22626	0.068000	0.19968	0.012000	0.07955	3.415000	0.52700	2.652000	0.90054	0.591000	0.81541	TCT		0.488	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		27	52	0	0	0	1	0	27	52				
ARFGAP1	55738	broad.mit.edu	37	20	61910339	61910339	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr20:61910339C>T	ENST00000370283.4	+	7	759	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	ARFGAP1_ENST00000519273.2_Silent_p.L94L|ARFGAP1_ENST00000353546.3_Silent_p.L207L|ARFGAP1_ENST00000519604.1_Silent_p.L154L|ARFGAP1_ENST00000370275.4_Silent_p.L207L|ARFGAP1_ENST00000547204.1_Silent_p.L133L	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	207					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CATGTCCTCCCTGTACTCGGT	0.602																																						ENST00000370275.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(619-621)Ctg>Ttg		ADP-ribosylation factor GTPase activating protein 1							107.0	90.0	96.0					20																	61910339		2203	4300	6503	SO:0001819	synonymous_variant	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61910339C>T	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.619C>T	20.37:g.61910339C>T						ARFGAP1_ENST00000370283.4_Silent_p.L207L|ARFGAP1_ENST00000353546.3_Silent_p.L207L|ARFGAP1_ENST00000519273.2_Silent_p.L94L|ARFGAP1_ENST00000519604.1_Silent_p.L154L|ARFGAP1_ENST00000547204.1_Silent_p.L133L	p.L207L			Q8N6T3	ARFG1_HUMAN			7	711	+	all_cancers(38;1.59e-09)		207					B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Silent	SNP	ENST00000370283.4	37	c.619C>T	CCDS13515.1																																																																																				0.602	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		14	49	0	0	0	1	0	14	49				
FAM92A1P2	403315	broad.mit.edu	37	4	183960166	183960166	+	RNA	SNP	C	C	T	rs561168514	byFrequency	TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr4:183960166C>T	ENST00000502308.1	+	0	1349					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		CACCAGAGATCATGTCAGCTA	0.388																																						ENST00000502308.1																			0																																																			403315							g.chr4:183960166C>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.183960166C>T								NR_003612.1						0	1349	+									RNA	SNP	ENST00000502308.1	37																																																																																						0.388	FAM92A1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361814.1			3	19	0	0	0	1	0	3	19				
OBSCN	84033	broad.mit.edu	37	1	228463619	228463619	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:228463619G>A	ENST00000422127.1	+	21	6156	c.6112G>A	c.(6112-6114)Gag>Aag	p.E2038K	OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.E2413K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E885K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E2038K|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2038	Ig-like 20.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATCCACGCCGAGGGCGCCCG	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(7237-7239)Gag>Aag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							16.0	20.0	19.0					1																	228463619		1947	4117	6064	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228463619G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6112G>A	1.37:g.228463619G>A	ENSP00000409493:p.Glu2038Lys					RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.E2038K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E885K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E2038K	p.E2413K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			25	7311	+		Prostate(94;0.0405)	1401					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.7237G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	16.46	3.128974	0.56721	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67171	-0.25;-0.25;-0.25	5.52	3.64	0.41730	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.279161	0.33732	N	0.004611	T	0.72220	0.3433	L	0.55481	1.735	0.80722	D	1	B;D	0.89917	0.41;1.0	B;D	0.69479	0.012;0.964	T	0.67654	-0.5615	10	0.09843	T	0.71	.	11.4447	0.50116	0.0684:0.1261:0.8055:0.0	.	2038;2038	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	2038;2038;885	ENSP00000284548:E2038K;ENSP00000409493:E2038K;ENSP00000352613:E885K	ENSP00000284548:E2038K	E	+	1	0	OBSCN	226530242	1.000000	0.71417	0.026000	0.17262	0.013000	0.08279	4.525000	0.60559	0.713000	0.32060	-0.330000	0.08379	GAG		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	16	0	0	0	1	0	9	16				
DDX18	8886	broad.mit.edu	37	2	118583876	118583876	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:118583876G>C	ENST00000263239.2	+	11	1681	c.1553G>C	c.(1552-1554)aGa>aCa	p.R518T		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	518	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAACAGCCAGAGGCCTAAAT	0.453																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1552-1554)aGa>aCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							82.0	71.0	74.0					2																	118583876		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118583876G>C	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1553G>C	2.37:g.118583876G>C	ENSP00000263239:p.Arg518Thr						p.R518T	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			11	1681	+			518			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1553G>C	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505889	0.85282	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	D;D	0.94793	-3.52;-3.52	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.093754	0.64402	D	0.000001	D	0.98648	0.9547	H	0.99525	4.61	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.99274	1.0894	10	0.66056	D	0.02	-6.4509	18.2749	0.90080	0.0:0.0:1.0:0.0	.	518	Q9NVP1	DDX18_HUMAN	T	518;257;182	ENSP00000263239:R518T;ENSP00000415604:R182T	ENSP00000263239:R518T	R	+	2	0	DDX18	118300346	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.476000	0.97823	2.636000	0.89361	0.555000	0.69702	AGA		0.453	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		25	56	0	0	0	1	0	25	56				
PDE4DIP	9659	broad.mit.edu	37	1	144930693	144930693	+	Intron	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:144930693C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R339K|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R339K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCAAAGACCTGTTAAGGAA	0.522			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(1015-1017)aGg>aAg		phosphodiesterase 4D interacting protein							103.0	109.0	107.0					1																	144930693		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144930693C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6872G>A	1.37:g.144930693C>T						PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R339K|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron	p.R339K			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1455	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.1016G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567433	0.28003	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.10960	2.82;2.82	5.58	5.58	0.84498	.	.	.	.	.	T	0.05823	0.0152	L	0.38531	1.155	0.80722	D	1	D	0.57257	0.979	P	0.50405	0.64	T	0.27123	-1.0083	9	0.08179	T	0.78	.	12.1277	0.53926	0.1712:0.8288:0.0:0.0	.	339	Q5VU43-2	.	K	339	ENSP00000316434:R339K;ENSP00000433392:R339K	ENSP00000316434:R339K	R	-	2	0	PDE4DIP	143642050	0.002000	0.14202	1.000000	0.80357	0.914000	0.54420	1.416000	0.34759	2.642000	0.89623	0.650000	0.86243	AGG		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		106	168	0	0	0	1	0	106	168				
OR4N5	390437	broad.mit.edu	37	14	20612098	20612098	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr14:20612098A>C	ENST00000333629.1	+	1	204	c.204A>C	c.(202-204)ttA>ttC	p.L68F	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACTTGGCCTTACTGGATGCAT	0.478																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(202-204)ttA>ttC		olfactory receptor, family 4, subfamily N, member 5							180.0	184.0	182.0					14																	20612098		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612098A>C		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.204A>C	14.37:g.20612098A>C	ENSP00000332110:p.Leu68Phe						p.L68F	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	204	+	all_cancers(95;0.00108)		68					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.204A>C	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	A	0.050	-1.253324	0.01457	.	.	ENSG00000184394	ENST00000333629	T	0.00363	7.82	3.99	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.149997	0.31301	N	0.007900	T	0.00109	0.0003	N	0.02345	-0.59	0.22629	N	0.998917	B	0.02656	0.0	B	0.01281	0.0	T	0.38866	-0.9641	10	0.02654	T	1	.	5.0783	0.14644	0.1664:0.6442:0.0:0.1894	.	68	Q8IXE1	OR4N5_HUMAN	F	68	ENSP00000332110:L68F	ENSP00000332110:L68F	L	+	3	2	OR4N5	19681938	0.000000	0.05858	0.998000	0.56505	0.792000	0.44763	-1.488000	0.02308	0.119000	0.18210	-0.778000	0.03378	TTA		0.478	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			5	245	0	0	0	1	0	5	245				
SPG11	80208	broad.mit.edu	37	15	44890538	44890538	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr15:44890538T>G	ENST00000261866.7	-	23	3942	c.3926A>C	c.(3925-3927)aAg>aCg	p.K1309T	SPG11_ENST00000535302.2_Missense_Mutation_p.K1309T|SPG11_ENST00000558319.1_Missense_Mutation_p.K1309T|SPG11_ENST00000427534.2_Missense_Mutation_p.K1309T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1309					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGTGGTTGTCTTTTCACCATC	0.373																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(3925-3927)aAg>aCg		spastic paraplegia 11 (autosomal recessive)							119.0	107.0	111.0					15																	44890538		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44890538T>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3926A>C	15.37:g.44890538T>G	ENSP00000261866:p.Lys1309Thr					SPG11_ENST00000558319.1_Missense_Mutation_p.K1309T|SPG11_ENST00000427534.2_Missense_Mutation_p.K1309T|SPG11_ENST00000535302.2_Missense_Mutation_p.K1309T	p.K1309T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	23	3942	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1309					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.3926A>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.386990	0.61956	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;D;D	0.84873	-1.91;-1.91;-1.91	5.43	1.69	0.24217	.	0.397127	0.29053	N	0.013290	T	0.80116	0.4564	L	0.60455	1.87	0.80722	D	1	P;P;P	0.47302	0.688;0.893;0.634	B;B;B	0.44085	0.276;0.44;0.215	T	0.75311	-0.3362	10	0.59425	D	0.04	.	3.7784	0.08669	0.1577:0.1749:0.0:0.6674	.	1309;1309;1309	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	T	1309	ENSP00000261866:K1309T;ENSP00000445278:K1309T;ENSP00000396110:K1309T	ENSP00000261866:K1309T	K	-	2	0	SPG11	42677830	0.992000	0.36948	0.986000	0.45419	0.899000	0.52679	0.570000	0.23653	0.380000	0.24823	0.460000	0.39030	AAG		0.373	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			17	57	0	0	0	1	0	17	57				
CAMTA1	23261	broad.mit.edu	37	1	7724457	7724457	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:7724457T>C	ENST00000303635.7	+	9	2057	c.1850T>C	c.(1849-1851)tTc>tCc	p.F617S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.F617S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGAGCTTCTTCCTGCAGGAC	0.627			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1849-1851)tTc>tCc		calmodulin binding transcription activator 1							85.0	101.0	96.0					1																	7724457		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724457T>C	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1850T>C	1.37:g.7724457T>C	ENSP00000306522:p.Phe617Ser					CAMTA1_ENST00000439411.2_Missense_Mutation_p.F617S	p.F617S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2057	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	617					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1850T>C	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	t	17.95	3.512926	0.64522	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.31247	1.5;1.5	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	L	0.53249	1.67	0.58432	D	0.999999	D	0.71674	0.998	D	0.75484	0.986	T	0.46679	-0.9174	10	0.44086	T	0.13	-20.0826	14.921	0.70838	0.0:0.0:0.0:1.0	.	617	Q9Y6Y1	CMTA1_HUMAN	S	617	ENSP00000306522:F617S;ENSP00000402561:F617S	ENSP00000306522:F617S	F	+	2	0	CAMTA1	7647044	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.928000	0.87587	1.950000	0.56595	0.408000	0.27601	TTC		0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		37	138	0	0	0	1	0	37	138				
LYPLAL1	127018	broad.mit.edu	37	1	219384842	219384842	+	Silent	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:219384842G>A	ENST00000366928.5	+	5	533	c.486G>A	c.(484-486)caG>caA	p.Q162Q	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Silent_p.Q146Q	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	162					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		AGGCTCTTCAGAAGAGTAATG	0.333																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6						c.(484-486)caG>caA		lysophospholipase-like 1							114.0	115.0	115.0					1																	219384842		2203	4299	6502	SO:0001819	synonymous_variant	127018					cytoplasm	lysophospholipase activity	g.chr1:219384842G>A	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.486G>A	1.37:g.219384842G>A						LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Silent_p.Q146Q	p.Q162Q	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	5	533	+			162					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Silent	SNP	ENST00000366928.5	37	c.486G>A	CCDS1522.1																																																																																				0.333	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		13	99	0	0	0	1	0	13	99				
NAB1	4664	broad.mit.edu	37	2	191524148	191524148	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:191524148C>T	ENST00000337386.5	+	4	707	c.246C>T	c.(244-246)ttC>ttT	p.F82F	NAB1_ENST00000409581.1_Silent_p.F82F|NAB1_ENST00000409641.1_Silent_p.F82F|NAB1_ENST00000357215.5_Silent_p.F82F|NAB1_ENST00000545490.1_5'Flank	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	82	NCD1.				endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CTGGGCTTTTCAATCAGCCAC	0.478																																						ENST00000337386.5																			0				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(244-246)ttC>ttT		NGFI-A binding protein 1 (EGR1 binding protein 1)							67.0	67.0	67.0					2																	191524148		2203	4300	6503	SO:0001819	synonymous_variant	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191524148C>T		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.246C>T	2.37:g.191524148C>T						NAB1_ENST00000357215.5_Silent_p.F82F|NAB1_ENST00000409581.1_Silent_p.F82F|NAB1_ENST00000409641.1_Silent_p.F82F	p.F82F	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		4	707	+			82			NCD1.		O75383|O75384|Q6GTU1|Q9UEV1	Silent	SNP	ENST00000337386.5	37	c.246C>T	CCDS2307.1																																																																																				0.478	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		83	68	0	0	0	1	0	83	68				
LILRA6	79168	broad.mit.edu	37	19	54746124	54746124	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:54746124C>T	ENST00000396365.2	-	3	172	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	LILRA6_ENST00000391735.3_Missense_Mutation_p.V45M|LILRA6_ENST00000245621.5_Missense_Mutation_p.V45M|LILRA6_ENST00000419410.2_Missense_Mutation_p.V45M|LILRA6_ENST00000440558.2_Missense_Mutation_p.V45M|LILRB3_ENST00000407860.2_Missense_Mutation_p.V45M|LILRA6_ENST00000270464.5_Missense_Mutation_p.V45M	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	45					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGATGGTCACGGGGCTCCCC	0.597																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(133-135)Gtg>Atg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							123.0	129.0	127.0					19																	54746124		2203	4300	6503	SO:0001583	missense	79168							g.chr19:54746124C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.133G>A	19.37:g.54746124C>T	ENSP00000379651:p.Val45Met					LILRA6_ENST00000396365.2_Missense_Mutation_p.V45M|LILRA6_ENST00000270464.5_Missense_Mutation_p.V45M|LILRA6_ENST00000391735.3_Missense_Mutation_p.V45M|LILRA6_ENST00000245621.5_Missense_Mutation_p.V45M|LILRB3_ENST00000407860.2_Missense_Mutation_p.V45M|LILRA6_ENST00000419410.2_Missense_Mutation_p.V45M	p.V45M						GBM - Glioblastoma multiforme(193;0.105)	3	181	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.133G>A	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036077	0.35893	.	.	ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	3.93	0.456	0.16655	Immunoglobulin-like fold (1);	0.129146	0.35124	N	0.003429	T	0.35364	0.0929	M	0.79805	2.47	0.09310	N	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.995;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;P;P;P;D;D;D;D;D;D	0.87578	0.916;0.814;0.773;0.846;0.991;0.918;0.919;0.963;0.998;0.98	T	0.08994	-1.0695	10	0.38643	T	0.18	.	6.3692	0.21471	0.0:0.6643:0.0:0.3357	.	45;45;45;45;45;45;45;45;45;45	C9JFH3;Q6PI73-2;B5MCX0;B5ME96;Q6PI73;F8WCY4;F8WD89;D3YTC4;F8W6G6;O75022-2	.;.;.;.;LIRA6_HUMAN;.;.;.;.;.	M	45	ENSP00000384274:V45M;ENSP00000390120:V45M;ENSP00000270464:V45M;ENSP00000411227:V45M;ENSP00000375615:V45M;ENSP00000379651:V45M;ENSP00000245621:V45M	ENSP00000245621:V45M	V	-	1	0	LILRB3;LILRA6	59437936	0.000000	0.05858	0.079000	0.20413	0.013000	0.08279	-0.719000	0.04974	-0.013000	0.14199	0.184000	0.17185	GTG		0.597	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		73	236	0	0	0	1	0	73	236				
PLCB3	5331	broad.mit.edu	37	11	64031183	64031183	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:64031183C>T	ENST00000540288.1	+	21	2579	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W	PLCB3_ENST00000279230.6_Missense_Mutation_p.R826W|PLCB3_ENST00000325234.5_Missense_Mutation_p.R759W	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	826					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CGTCTGCCTGCGGAACGAGGC	0.662																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(2476-2478)Cgg>Tgg		phospholipase C, beta 3 (phosphatidylinositol-specific)							118.0	109.0	112.0					11																	64031183		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64031183C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2476C>T	11.37:g.64031183C>T	ENSP00000443631:p.Arg826Trp					PLCB3_ENST00000279230.6_Missense_Mutation_p.R826W|PLCB3_ENST00000325234.5_Missense_Mutation_p.R759W	p.R826W	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			21	2579	+			826					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.2476C>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200076	0.79015	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.15017	2.46;2.46;2.46	5.25	3.14	0.36123	C2 calcium/lipid-binding domain, CaLB (1);	0.121017	0.56097	D	0.000035	T	0.44519	0.1297	M	0.84156	2.68	0.42748	D	0.993762	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55842	-0.8077	10	0.87932	D	0	.	14.6018	0.68445	0.2752:0.7248:0.0:0.0	.	759;826	G5E960;Q01970	.;PLCB3_HUMAN	W	826;826;759	ENSP00000279230:R826W;ENSP00000443631:R826W;ENSP00000324660:R759W	ENSP00000279230:R826W	R	+	1	2	PLCB3	63787759	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.514000	0.35834	1.188000	0.43014	0.561000	0.74099	CGG		0.662	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			18	109	0	0	0	1	0	18	109				
KARS	3735	broad.mit.edu	37	16	75664388	75664388	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr16:75664388C>T	ENST00000302445.3	-	11	1396	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.E481K	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	453					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CAAGTCACTTCCAGGAACTCC	0.438																																						ENST00000319410.5																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(1441-1443)Gaa>Aaa		lysyl-tRNA synthetase	L-Lysine(DB00123)						92.0	79.0	83.0					16																	75664388		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75664388C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1357G>A	16.37:g.75664388C>T	ENSP00000303043:p.Glu453Lys					KARS_ENST00000302445.3_Missense_Mutation_p.E453K|KARS_ENST00000568378.1_Intron	p.E481K	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			12	1562	-			453					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1441G>A	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	35	5.580974	0.96565	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.78924	-1.22;-1.22	5.91	5.91	0.95273	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.979;0.987	D	0.95885	0.8902	10	0.87932	D	0	-3.188	18.8766	0.92338	0.0:1.0:0.0:0.0	.	481;453	Q15046-2;Q15046	.;SYK_HUMAN	K	481;453	ENSP00000325448:E481K;ENSP00000303043:E453K	ENSP00000303043:E453K	E	-	1	0	KARS	74221889	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.683000	0.84093	2.793000	0.96121	0.655000	0.94253	GAA		0.438	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		11	27	0	0	0	1	0	11	27				
P2RY11	5032	broad.mit.edu	37	19	10224864	10224864	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:10224864T>C	ENST00000321826.4	+	2	759	c.575T>C	c.(574-576)cTg>cCg	p.L192P	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L612P|PPAN_ENST00000556468.1_Missense_Mutation_p.L612P|PPAN-P2RY11_ENST00000428358.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	192					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			ATCAAGTGTCTGGGGACAGCA	0.692																																						ENST00000556468.1																			0				endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1834-1836)cTg>cCg		peter pan homolog (Drosophila)							18.0	21.0	20.0					19																	10224864		2168	4234	6402	SO:0001583	missense	56342							g.chr19:10224864T>C	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.575T>C	19.37:g.10224864T>C	ENSP00000323872:p.Leu192Pro					PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L612P|P2RY11_ENST00000321826.4_Missense_Mutation_p.L192P|PPAN-P2RY11_ENST00000428358.1_3'UTR	p.L612P					OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	1862	+								B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.1835T>C	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456427	0.84317	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.64618	-0.11;-0.11;-0.11	4.62	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.203527	0.33253	U	0.005115	T	0.75752	0.3892	M	0.78049	2.395	0.51012	D	0.999909	D	0.76494	0.999	D	0.75020	0.985	T	0.75156	-0.3417	10	0.51188	T	0.08	-11.1898	9.5669	0.39405	0.1576:0.0:0.0:0.8424	.	192	Q96G91	P2Y11_HUMAN	P	612;612;192	ENSP00000377385:L612P;ENSP00000450710:L612P;ENSP00000323872:L192P	ENSP00000323872:L192P	L	+	2	0	PPAN;P2RY11;PPAN-P2RY11	10085864	0.970000	0.33590	0.947000	0.38551	0.392000	0.30506	0.751000	0.26348	0.773000	0.33404	0.459000	0.35465	CTG		0.692	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		15	45	0	0	0	1	0	15	45				
AGO1	26523	broad.mit.edu	37	1	36385120	36385120	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:36385120C>T	ENST00000373204.4	+	19	2699	c.2486C>T	c.(2485-2487)tCg>tTg	p.S829L	AGO1_ENST00000373206.1_Missense_Mutation_p.S754L	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	829					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AGCCACATATCGGGGCAGAGC	0.577																																						ENST00000373204.4																			0											c.(2485-2487)tCg>tTg		argonaute RISC catalytic component 1							36.0	38.0	38.0					1																	36385120		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36385120C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.2486C>T	1.37:g.36385120C>T	ENSP00000362300:p.Ser829Leu					AGO1_ENST00000373206.1_Missense_Mutation_p.S754L	p.S829L	NM_012199.2	NP_036331.1					19	2699	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.2486C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958591	0.74016	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.11821	2.75;2.74	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	M	0.66297	2.02	0.80722	D	1	D	0.63880	0.993	P	0.56648	0.803	T	0.00759	-1.1578	10	0.87932	D	0	-4.7957	13.1168	0.59305	0.0:0.9235:0.0:0.0765	.	829	Q9UL18	AGO1_HUMAN	L	754;829	ENSP00000362302:S754L;ENSP00000362300:S829L	ENSP00000362300:S829L	S	+	2	0	EIF2C1	36157707	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.506000	0.81665	2.706000	0.92434	0.655000	0.94253	TCG		0.577	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			5	18	0	0	0	1	0	5	18				
FGF12	2257	broad.mit.edu	37	3	192053223	192053223	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:192053223C>T	ENST00000454309.2	-	3	1166	c.341G>A	c.(340-342)cGt>cAt	p.R114H	FGF12_ENST00000450716.1_Missense_Mutation_p.R52H|FGF12_ENST00000445105.2_Missense_Mutation_p.R52H|FGF12_ENST00000430714.1_Missense_Mutation_p.R15H|FGF12_ENST00000264730.3_Missense_Mutation_p.R52H	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	114					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GGCCACTACACGCAGGCCCAC	0.443																																						ENST00000454309.2																			0				endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(340-342)cGt>cAt		fibroblast growth factor 12							88.0	77.0	81.0					3																	192053223		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192053223C>T	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.341G>A	3.37:g.192053223C>T	ENSP00000413496:p.Arg114His					FGF12_ENST00000445105.1_Missense_Mutation_p.R52H|FGF12_ENST00000430714.1_Missense_Mutation_p.R15H|FGF12_ENST00000264730.3_Missense_Mutation_p.R52H|FGF12_ENST00000450716.1_Missense_Mutation_p.R52H	p.R114H	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	3	1166	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	114					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.341G>A	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785300	0.70337	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000430714;ENST00000448795;ENST00000418610	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	M	0.88570	2.965	0.80722	D	1	P;D	0.63046	0.871;0.992	B;P	0.51866	0.199;0.682	D	0.83501	0.0075	10	0.54805	T	0.06	.	16.9208	0.86164	0.0:1.0:0.0:0.0	.	52;114	P61328-2;P61328	.;FGF12_HUMAN	H	52;52;52;114;52;15;28;52	ENSP00000264730:R52H;ENSP00000393686:R52H;ENSP00000413496:R114H;ENSP00000397635:R52H;ENSP00000410125:R15H;ENSP00000412904:R28H;ENSP00000395517:R52H	ENSP00000264730:R52H	R	-	2	0	FGF12	193535917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.137000	0.77295	2.573000	0.86826	0.655000	0.94253	CGT		0.443	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		57	111	0	0	0	1	0	57	111				
LHX4	89884	broad.mit.edu	37	1	180243494	180243494	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:180243494C>T	ENST00000263726.2	+	6	1197	c.953C>T	c.(952-954)tCg>tTg	p.S318L	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	318					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TCCTCCATATCGTCCCTGCCA	0.547																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(952-954)tCg>tTg		LIM homeobox 4							195.0	171.0	179.0					1																	180243494		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180243494C>T	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.953C>T	1.37:g.180243494C>T	ENSP00000263726:p.Ser318Leu					RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	p.S318L	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			6	1197	+			318					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.953C>T	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074818	0.55646	.	.	ENSG00000121454	ENST00000263726	D	0.88818	-2.43	5.68	4.76	0.60689	.	0.064907	0.64402	D	0.000006	T	0.82254	0.4997	L	0.40543	1.245	0.48185	D	0.999606	P	0.39326	0.668	B	0.29942	0.109	T	0.80464	-0.1371	10	0.28530	T	0.3	.	15.5269	0.75919	0.0:0.8609:0.1391:0.0	.	318	Q969G2	LHX4_HUMAN	L	318	ENSP00000263726:S318L	ENSP00000263726:S318L	S	+	2	0	LHX4	178510117	0.959000	0.32827	0.997000	0.53966	0.996000	0.88848	2.312000	0.43726	1.370000	0.46153	0.655000	0.94253	TCG		0.547	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		5	228	0	0	0	1	0	5	228				
YIPF7	285525	broad.mit.edu	37	4	44652088	44652088	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr4:44652088A>C	ENST00000332990.5	-	2	118	c.102T>G	c.(100-102)gaT>gaG	p.D34E	YIPF7_ENST00000415895.4_Missense_Mutation_p.D10E	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	34						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATTGGTAAAAATCAGAGTCAA	0.294																																						ENST00000332990.5																			0				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						c.(100-102)gaT>gaG		Yip1 domain family, member 7							40.0	38.0	39.0					4																	44652088		1806	4067	5873	SO:0001583	missense	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44652088A>C	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.102T>G	4.37:g.44652088A>C	ENSP00000332772:p.Asp34Glu					YIPF7_ENST00000508947.1_5'UTR	p.D34E	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN			2	118	-			34					Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	c.102T>G	CCDS54766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.70|16.70	3.195612|3.195612	0.58126|0.58126	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000332990|ENST00000415895	T|.	0.58060|.	0.36|.	5.45|5.45	-2.08|-2.08	0.07254|0.07254	.|.	0.103551|.	0.64402|.	D|.	0.000005|.	T|T	0.51839|0.51839	0.1698|0.1698	M|M	0.77313|0.77313	2.365|2.365	0.23168|0.23168	N|N	0.998182|0.998182	B;B|.	0.33448|.	0.412;0.096|.	B;B|.	0.36766|.	0.232;0.066|.	T|T	0.51834|0.51834	-0.8655|-0.8655	10|5	0.49607|.	T|.	0.09|.	-0.0641|-0.0641	6.7623|6.7623	0.23548|0.23548	0.2599:0.0:0.581:0.1591|0.2599:0.0:0.581:0.1591	.|.	34;34|.	Q8N8F6-4;Q8N8F6|.	.;YIPF7_HUMAN|.	E|V	34|11	ENSP00000332772:D34E|.	ENSP00000332772:D34E|.	D|F	-|-	3|1	2|0	YIPF7|YIPF7	44346845|44346845	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.969000|0.969000	0.65631|0.65631	0.406000|0.406000	0.21032|0.21032	-0.274000|-0.274000	0.09232|0.09232	0.524000|0.524000	0.50904|0.50904	GAT|TTT		0.294	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		7	2	0	0	0	1	0	7	2				
PIK3CA	5290	broad.mit.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> R (in CLOVE and CRC; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). {ECO:0000269|PubMed:22658544}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		40	Substitution - Missense(40)	p.C420R(40)	breast(15)|large_intestine(10)|endometrium(7)|central_nervous_system(2)|lung(2)|prostate(2)|stomach(1)|NS(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1258-1260)Tgt>Cgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							85.0	80.0	82.0					3																	178927980		1822	4078	5900	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178927980T>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1258T>C	3.37:g.178927980T>C	ENSP00000263967:p.Cys420Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C420R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1415	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		420		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1258T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925687	0.73213	.	.	ENSG00000121879	ENST00000263967	T	0.68903	-0.36	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.74284	-0.3715	10	0.25751	T	0.34	-11.2314	15.6207	0.76805	0.0:0.0:0.0:1.0	.	420	P42336	PK3CA_HUMAN	R	420	ENSP00000263967:C420R	ENSP00000263967:C420R	C	+	1	0	PIK3CA	180410674	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.698000	0.84413	2.105000	0.64084	0.460000	0.39030	TGT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			35	98	0	0	0	1	0	35	98				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			201283							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		4	116	0	0	0	1	0	4	116				
ENAM	10117	broad.mit.edu	37	4	71510131	71510131	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr4:71510131C>T	ENST00000396073.3	+	9	3269	c.2988C>T	c.(2986-2988)aaC>aaT	p.N996N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	996					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)			ATGGGAACAACATTCTGGAAC	0.423																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2986-2988)aaC>aaT		enamelin							105.0	98.0	101.0					4																	71510131		2203	4300	6503	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510131C>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.2988C>T	4.37:g.71510131C>T						ENAM_ENST00000472903.1_Intron	p.N996N	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3269	+			996					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.2988C>T	CCDS3544.2																																																																																				0.423	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		35	129	0	0	0	1	0	35	129				
CD5L	922	broad.mit.edu	37	1	157805671	157805671	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:157805671T>G	ENST00000368174.4	-	3	426	c.330A>C	c.(328-330)gaA>gaC	p.E110D	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	110	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AATCATAAACTTCTTCTTGCT	0.498																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(328-330)gaA>gaC		CD5 molecule-like							179.0	181.0	181.0					1																	157805671		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805671T>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.330A>C	1.37:g.157805671T>G	ENSP00000357156:p.Glu110Asp						p.E110D	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	426	-	all_hematologic(112;0.0378)		110			SRCR 1.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.330A>C	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	8.368	0.834695	0.16820	.	.	ENSG00000073754	ENST00000368174	T	0.35236	1.32	4.68	-3.87	0.04218	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.868442	0.09565	N	0.784970	T	0.03520	0.0101	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35500	-0.9786	10	0.32370	T	0.25	.	0.9063	0.01285	0.4788:0.1163:0.2078:0.197	.	110	O43866	CD5L_HUMAN	D	110	ENSP00000357156:E110D	ENSP00000357156:E110D	E	-	3	2	CD5L	156072295	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.093000	0.00296	-1.025000	0.03334	-0.490000	0.04691	GAA		0.498	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		41	174	0	0	0	1	0	41	174				
DST	667	broad.mit.edu	37	6	56425108	56425108	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:56425108C>T	ENST00000361203.3	-	54	13798	c.13791G>A	c.(13789-13791)caG>caA	p.Q4597Q	DST_ENST00000370769.4_Silent_p.Q4599Q|DST_ENST00000421834.2_Silent_p.Q2511Q|DST_ENST00000370754.5_Silent_p.Q4777Q|DST_ENST00000370788.2_Silent_p.Q2511Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.Q2185Q|DST_ENST00000446842.2_Silent_p.Q4273Q			Q03001	DYST_HUMAN	dystonin	4597					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGTCAACATCTGTTTCCATC	0.378																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(14329-14331)caG>caA		dystonin							102.0	98.0	99.0					6																	56425108		1858	4106	5964	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56425108C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13791G>A	6.37:g.56425108C>T						DST_ENST00000361203.3_Silent_p.Q4597Q|DST_ENST00000421834.2_Silent_p.Q2511Q|DST_ENST00000370769.4_Silent_p.Q4599Q|DST_ENST00000244364.6_Silent_p.Q2185Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.Q2511Q|DST_ENST00000446842.2_Silent_p.Q4273Q	p.Q4777Q			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		58	14330	-	Lung NSC(77;0.103)		4597					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.14331G>A																																																																																					0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		6	23	0	0	0	1	0	6	23				
CPED1	79974	broad.mit.edu	37	7	120767204	120767204	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:120767204G>C	ENST00000310396.5	+	10	1662	c.1195G>C	c.(1195-1197)Gaa>Caa	p.E399Q	CPED1_ENST00000423795.1_Missense_Mutation_p.E179Q|CPED1_ENST00000450913.2_Missense_Mutation_p.E399Q	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	399						endoplasmic reticulum (GO:0005783)		p.E399*(1)									CCAAAATACAGAAGAATTCCT	0.294																																						ENST00000310396.5																			1	Substitution - Nonsense(1)	p.E399*(1)	lung(1)								c.(1195-1197)Gaa>Caa		cadherin-like and PC-esterase domain containing 1							84.0	89.0	87.0					7																	120767204		2198	4292	6490	SO:0001583	missense	79974							g.chr7:120767204G>C		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1195G>C	7.37:g.120767204G>C	ENSP00000309772:p.Glu399Gln					CPED1_ENST00000450913.2_Missense_Mutation_p.E399Q|CPED1_ENST00000423795.1_Missense_Mutation_p.E179Q	p.E399Q	NM_024913.4	NP_079189.4					10	1662	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.1195G>C	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.025936	0.54683	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.47869	2.16;0.83;1.83;1.83;1.41	4.66	3.76	0.43208	.	0.239755	0.35870	N	0.002925	T	0.61248	0.2332	M	0.72118	2.19	0.80722	D	1	D;P;P	0.89917	1.0;0.932;0.9	D;P;P	0.85130	0.997;0.726;0.498	T	0.62548	-0.6831	10	0.54805	T	0.06	.	5.6846	0.17794	0.2293:0.0:0.7707:0.0	.	179;399;399	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	Q	399;399;399;179;179	ENSP00000309772:E399Q;ENSP00000398082:E399Q;ENSP00000406122:E399Q;ENSP00000415573:E179Q;ENSP00000391952:E179Q	ENSP00000309772:E399Q	E	+	1	0	C7orf58	120554440	0.998000	0.40836	0.977000	0.42913	0.770000	0.43624	3.096000	0.50243	2.295000	0.77249	0.467000	0.42956	GAA		0.294	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		30	70	0	0	0	1	0	30	70				
OR4N2	390429	broad.mit.edu	37	14	20296121	20296121	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr14:20296121A>C	ENST00000315947.1	+	1	514	c.514A>C	c.(514-516)Aac>Cac	p.N172H	OR4N2_ENST00000568211.1_Missense_Mutation_p.N172H	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	172						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTGGCCCAAACCAGCTGGA	0.522																																						ENST00000568211.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(514-516)Aac>Cac		olfactory receptor, family 4, subfamily N, member 2							129.0	136.0	134.0					14																	20296121		2203	4297	6500	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296121A>C		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.514A>C	14.37:g.20296121A>C	ENSP00000319601:p.Asn172His					OR4N2_ENST00000315947.1_Missense_Mutation_p.N172H	p.N172H			Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	514	+	all_cancers(95;0.00108)		172					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.514A>C	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.840570	0.51057	.	.	ENSG00000176294	ENST00000315947	T	0.00256	8.42	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000054	T	0.00468	0.0015	M	0.72624	2.21	0.09310	N	1	D	0.67145	0.996	D	0.69824	0.966	T	0.49466	-0.8937	10	0.72032	D	0.01	-15.3736	12.081	0.53671	1.0:0.0:0.0:0.0	.	172	Q8NGD1	OR4N2_HUMAN	H	172	ENSP00000319601:N172H	ENSP00000319601:N172H	N	+	1	0	OR4N2	19365961	0.004000	0.15560	0.983000	0.44433	0.875000	0.50365	1.196000	0.32198	2.008000	0.58898	0.477000	0.44152	AAC		0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			54	260	0	0	0	1	0	54	260				
CPVL	54504	broad.mit.edu	37	7	29035451	29035451	+	Silent	SNP	C	C	G	rs375370289		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:29035451C>G	ENST00000409850.1	-	17	2014	c.1368G>C	c.(1366-1368)ctG>ctC	p.L456L	CPVL_ENST00000396276.3_Silent_p.L456L|CTB-113D17.1_ENST00000609389.1_RNA|CPVL_ENST00000265394.5_Silent_p.L456L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	456						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CAAAAGCTCTCAGAGGCTGGT	0.338																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(1366-1368)ctG>ctC		carboxypeptidase, vitellogenic-like							76.0	71.0	73.0					7																	29035451		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29035451C>G	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1368G>C	7.37:g.29035451C>G						CPVL_ENST00000396276.3_Silent_p.L456L|CPVL_ENST00000265394.5_Silent_p.L456L	p.L456L			Q9H3G5	CPVL_HUMAN			17	2014	-			456					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.1368G>C	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	8.639	0.895519	0.17686	.	.	ENSG00000106066	ENST00000432534	.	.	.	6.17	3.23	0.37069	.	.	.	.	.	T	0.35480	0.0933	.	.	.	0.30076	N	0.809628	.	.	.	.	.	.	T	0.28138	-1.0053	4	.	.	.	-11.1736	7.3367	0.26613	0.0:0.5807:0.2972:0.122	.	.	.	.	Q	160	.	.	E	-	1	0	CPVL	29001976	0.976000	0.34144	1.000000	0.80357	0.986000	0.74619	0.587000	0.23909	1.587000	0.49959	0.655000	0.94253	GAG		0.338	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		23	68	0	0	0	1	0	23	68				
GRIN2D	2906	broad.mit.edu	37	19	48945146	48945146	+	Silent	SNP	C	C	T	rs534422494		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:48945146C>T	ENST00000263269.3	+	11	2461	c.2373C>T	c.(2371-2373)atC>atT	p.I791I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	791					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTATGGCATCGCCCTGCACA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19140	0.0		0.0	False		,,,				2504	0.001					ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2371-2373)atC>atT		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						52.0	42.0	45.0					19																	48945146		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945146C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2373C>T	19.37:g.48945146C>T							p.I791I	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	11	2461	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	791						Silent	SNP	ENST00000263269.3	37	c.2373C>T	CCDS12719.1																																																																																				0.632	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			9	64	0	0	0	1	0	9	64				
FOLH1B	219595	broad.mit.edu	37	11	89431583	89431583	+	RNA	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:89431583T>C	ENST00000532352.1	+	0	1865							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AACAGGCATGTCATCTATGCT	0.413																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							72.0	73.0	73.0					11																	89431583		2201	4296	6497			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89431583T>C	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89431583T>C										Q9HBA9	FOH1B_HUMAN			0	1865	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.413	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		68	46	0	0	0	1	0	68	46				
PEG3	5178	broad.mit.edu	37	19	57327859	57327859	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:57327859T>C	ENST00000326441.9	-	10	2314	c.1951A>G	c.(1951-1953)Aga>Gga	p.R651G	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R651G|PEG3_ENST00000593695.1_Missense_Mutation_p.R525G|PEG3_ENST00000598410.1_Missense_Mutation_p.R527G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	651					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGGTTCCCTCTAGTATGGATT	0.398																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1951-1953)Aga>Gga		paternally expressed 3							111.0	112.0	112.0					19																	57327859		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327859T>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1951A>G	19.37:g.57327859T>C	ENSP00000326581:p.Arg651Gly					PEG3_ENST00000598410.1_Missense_Mutation_p.R527G|PEG3_ENST00000593695.1_Missense_Mutation_p.R525G|PEG3_ENST00000423103.2_Missense_Mutation_p.R651G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron	p.R651G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2314	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	651					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1951A>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	3.861	-0.029839	0.07589	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.10573	2.86;2.86	3.93	1.64	0.23874	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000373	T	0.08891	0.0220	L	0.59912	1.85	.	.	.	B;B;B	0.28324	0.207;0.029;0.037	B;B;B	0.33196	0.159;0.018;0.025	T	0.30966	-0.9960	9	0.02654	T	1	-21.8701	5.4872	0.16757	0.0:0.1064:0.4936:0.4	.	527;651;586	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	G	651	ENSP00000326581:R651G;ENSP00000403051:R651G	ENSP00000326581:R651G	R	-	1	2	ZIM2	62019671	0.000000	0.05858	0.285000	0.24819	0.969000	0.65631	0.092000	0.15066	0.285000	0.22329	0.477000	0.44152	AGA		0.398	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			88	75	0	0	0	1	0	88	75				
BIRC2	329	broad.mit.edu	37	11	102220775	102220775	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:102220775G>A	ENST00000227758.2	+	2	1589	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	BIRC2_ENST00000530675.1_Missense_Mutation_p.E15K|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.E43K	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	64					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GCCTGTCTCAGAAAGGAGTCT	0.428																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(190-192)Gaa>Aaa		baculoviral IAP repeat containing 2							108.0	108.0	108.0					11																	102220775		2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102220775G>A	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.190G>A	11.37:g.102220775G>A	ENSP00000227758:p.Glu64Lys					BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.E43K|BIRC2_ENST00000530675.1_Missense_Mutation_p.E15K	p.E64K	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	1589	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	64					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.190G>A	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686612	0.88639	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.03689	3.84;3.84;3.84;3.84	5.65	4.74	0.60224	Baculoviral inhibition of apoptosis protein repeat (5);	0.083677	0.85682	N	0.000000	T	0.09512	0.0234	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.34900	-0.9810	10	0.39692	T	0.17	-3.1767	13.6221	0.62143	0.0745:0.0:0.9255:0.0	.	64	Q13490	BIRC2_HUMAN	K	15;64;64;43;43	ENSP00000431723:E15K;ENSP00000227758:E64K;ENSP00000434979:E43K;ENSP00000434708:E43K	ENSP00000227758:E64K	E	+	1	0	BIRC2	101725985	0.966000	0.33281	1.000000	0.80357	0.991000	0.79684	5.627000	0.67784	1.626000	0.50381	0.655000	0.94253	GAA		0.428	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		41	78	0	0	0	1	0	41	78				
EDNRB	1910	broad.mit.edu	37	13	78472336	78472336	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr13:78472336C>G	ENST00000334286.5	-	7	1564	c.1328G>C	c.(1327-1329)tGa>tCa	p.*443S	EDNRB_ENST00000377211.4_Nonstop_Mutation_p.*533S|EDNRB_ENST00000446573.1_Intron	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	0					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GTTCTTCTTTCAAGATGAGCT	0.323																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(1597-1599)tGa>tCa		endothelin receptor type B	Bosentan(DB00559)						97.0	89.0	91.0					13																	78472336		2202	4300	6502	SO:0001578	stop_lost	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78472336C>G	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1328G>C	13.37:g.78472336C>G						EDNRB_ENST00000334286.5_Nonstop_Mutation_p.*443S|EDNRB_ENST00000446573.1_Intron	p.*533S	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	8	1750	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	0					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Nonstop_Mutation	SNP	ENST00000334286.5	37	c.1598G>C	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595120	0.46318	.	.	ENSG00000136160	ENST00000377211;ENST00000334286	.	.	.	5.95	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9718	0.35910	0.0:0.724:0.0:0.276	.	.	.	.	S	533;443	.	.	X	-	2	2	EDNRB	77370337	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.036000	0.41165	0.854000	0.35336	0.650000	0.86243	TGA		0.323	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			25	28	0	0	0	1	0	25	28				
AGMAT	79814	broad.mit.edu	37	1	15909714	15909714	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:15909714G>A	ENST00000375826.3	-	2	591	c.449C>T	c.(448-450)gCa>gTa	p.A150V	RP4-680D5.2_ENST00000428945.1_RNA|DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	150					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGCCAGCTGCTACAATTTT	0.498																																					NSCLC(126;1678 1780 25805 43508 49531)	ENST00000375826.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12						c.(448-450)gCa>gTa		agmatine ureohydrolase (agmatinase)							59.0	61.0	60.0					1																	15909714		2203	4300	6503	SO:0001583	missense	79814				putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding	g.chr1:15909714G>A	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.449C>T	1.37:g.15909714G>A	ENSP00000364986:p.Ala150Val					DNAJC16_ENST00000483270.1_Intron	p.A150V	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)	2	591	-		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	150					Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	37	c.449C>T	CCDS160.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749966	0.69533	.	.	ENSG00000116771	ENST00000375826	T	0.33216	1.42	5.17	4.26	0.50523	Ureohydrolase domain (1);	0.167885	0.51477	D	0.000090	T	0.61602	0.2360	H	0.95884	3.735	0.42341	D	0.99233	P	0.47191	0.891	P	0.55667	0.781	T	0.72918	-0.4146	10	0.59425	D	0.04	-8.7209	12.4805	0.55839	0.0819:0.0:0.9181:0.0	.	150	Q9BSE5	SPEB_HUMAN	V	150	ENSP00000364986:A150V	ENSP00000364986:A150V	A	-	2	0	AGMAT	15782301	0.661000	0.27430	0.023000	0.16930	0.471000	0.32888	2.573000	0.46007	1.189000	0.43028	0.563000	0.77884	GCA		0.498	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		21	44	0	0	0	1	0	21	44				
ZMYM4	9202	broad.mit.edu	37	1	35847020	35847020	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:35847020C>A	ENST00000314607.6	+	8	1422	c.1342C>A	c.(1342-1344)Cag>Aag	p.Q448K	ZMYM4_ENST00000373297.2_Missense_Mutation_p.Q448K	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	448					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCATGTGTCAGAAGAATGC	0.348																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1342-1344)Cag>Aag		zinc finger, MYM-type 4							80.0	73.0	75.0					1																	35847020		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35847020C>A	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1342C>A	1.37:g.35847020C>A	ENSP00000322915:p.Gln448Lys					ZMYM4_ENST00000373297.2_Missense_Mutation_p.Q448K	p.Q448K	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			8	1422	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	448					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.1342C>A	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.465|5.465	0.270871|0.270871	0.10349|0.10349	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.22945|.	1.98;1.93|.	5.31|5.31	5.31|5.31	0.75309|0.75309	TRASH (1);|.	0.286988|.	0.34580|.	N|.	0.003858|.	T|.	0.59445|.	0.2194|.	L|L	0.58810|0.58810	1.83|1.83	0.09310|0.09310	N|N	0.999994|0.999994	B|.	0.09022|.	0.002|.	B|.	0.12837|.	0.008|.	T|.	0.53683|.	-0.8404|.	10|.	0.02654|.	T|.	1|.	-0.0464|-0.0464	18.9704|18.9704	0.92712|0.92712	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	448|.	Q5VZL5|.	ZMYM4_HUMAN|.	K|X	448|196	ENSP00000322915:Q448K;ENSP00000362394:Q448K|.	ENSP00000322915:Q448K|.	Q|S	+|+	1|2	0|0	ZMYM4|ZMYM4	35619607|35619607	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	3.609000|3.609000	0.54117|0.54117	2.487000|2.487000	0.83934|0.83934	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.348	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		15	33	1	0	6.72482e-11	1	7.41616e-11	15	33				
OR10W1	81341	broad.mit.edu	37	11	58034866	58034866	+	Silent	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:58034866G>A	ENST00000395079.2	-	1	866	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				ATGGCAGAGAGAAGATGAAGG	0.488																																						ENST00000395079.2																			0				kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(463-465)ttC>ttT		olfactory receptor, family 10, subfamily W, member 1							100.0	69.0	79.0					11																	58034866		2201	4295	6496	SO:0001819	synonymous_variant	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034866G>A	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.465C>T	11.37:g.58034866G>A							p.F155F	NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN			1	866	-		Breast(21;0.0589)	155					A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	ENST00000395079.2	37	c.465C>T	CCDS7968.1																																																																																				0.488	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		5	17	0	0	0	1	0	5	17				
PSPC1	55269	broad.mit.edu	37	13	20279929	20279929	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr13:20279929G>A	ENST00000338910.4	-	8	1418	c.1259C>T	c.(1258-1260)cCa>cTa	p.P420L		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	420	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ACCCATCATTGGAGGAGGACC	0.458																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1258-1260)cCa>cTa		paraspeckle component 1							134.0	138.0	137.0					13																	20279929		1884	4123	6007	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20279929G>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1259C>T	13.37:g.20279929G>A	ENSP00000343966:p.Pro420Leu						p.P420L	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	8	1418	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	420			Gly-rich.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.1259C>T	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.496101	0.64186	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.15139	2.45	5.29	5.29	0.74685	.	0.180665	0.39687	N	0.001287	T	0.15219	0.0367	L	0.33485	1.01	0.58432	D	0.999999	B	0.34103	0.437	B	0.29077	0.098	T	0.03875	-1.0996	10	0.33940	T	0.23	-4.5566	18.9252	0.92541	0.0:0.0:1.0:0.0	.	420	Q8WXF1	PSPC1_HUMAN	L	420;360	ENSP00000343966:P420L	ENSP00000343966:P420L	P	-	2	0	PSPC1	19177929	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.451000	0.73481	2.473000	0.83533	0.491000	0.48974	CCA		0.458	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			7	86	0	0	0	1	0	7	86				
TRIM42	287015	broad.mit.edu	37	3	140401898	140401898	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:140401898C>A	ENST00000286349.3	+	2	1127	c.936C>A	c.(934-936)ttC>ttA	p.F312L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	312						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTGCACCTTCTGCAAGTTCT	0.562																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(934-936)ttC>ttA		tripartite motif containing 42							259.0	221.0	234.0					3																	140401898		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401898C>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.936C>A	3.37:g.140401898C>A	ENSP00000286349:p.Phe312Leu						p.F312L	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	1127	+			312					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.936C>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	4.811	0.150776	0.09185	.	.	ENSG00000155890	ENST00000286349	T	0.40756	1.02	5.46	5.46	0.80206	Zinc finger, B-box (2);	0.189090	0.37857	N	0.001919	T	0.24547	0.0595	N	0.14661	0.345	0.37289	D	0.908168	B	0.02656	0.0	B	0.04013	0.001	T	0.12760	-1.0535	10	0.06757	T	0.87	-19.4377	14.805	0.69945	0.0:1.0:0.0:0.0	.	312	Q8IWZ5	TRI42_HUMAN	L	312	ENSP00000286349:F312L	ENSP00000286349:F312L	F	+	3	2	TRIM42	141884588	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	2.371000	0.44248	2.567000	0.86603	0.561000	0.74099	TTC		0.562	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		6	53	1	0	3.59834e-05	1	3.77425e-05	6	53				
LRRK2	120892	broad.mit.edu	37	12	40758785	40758785	+	Silent	SNP	T	T	A	rs558176427		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr12:40758785T>A	ENST00000298910.7	+	49	7381	c.7323T>A	c.(7321-7323)acT>acA	p.T2441T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2441					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATCTTTCAACTCGTCGACTTA	0.398											OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T|||	1	0.000199681	0.0	0.0	5008	,	,		18310	0.0		0.0	False		,,,				2504	0.001					ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(7321-7323)acT>acA		leucine-rich repeat kinase 2							106.0	98.0	101.0					12																	40758785		2203	4299	6502	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40758785T>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7323T>A	12.37:g.40758785T>A			OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	895		p.T2441T	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			49	7381	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2441					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.7323T>A	CCDS31774.1																																																																																				0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		11	50	0	0	0	1	0	11	50				
UBQLNL	143630	broad.mit.edu	37	11	5537243	5537243	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:5537243T>G	ENST00000380184.1	-	1	692	c.429A>C	c.(427-429)caA>caC	p.Q143H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	143			Q -> K (in dbSNP:rs3802978).							endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CCACTGGAGCTTGATTCATAC	0.542																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(427-429)caA>caC		ubiquilin-like							182.0	180.0	181.0					11																	5537243		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537243T>G	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.429A>C	11.37:g.5537243T>G	ENSP00000369531:p.Gln143His					HBG2_ENST00000380259.2_Intron	p.Q143H	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	692	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	143		Q -> K (in dbSNP:rs3802978).			Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.429A>C	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.754445	0.00663	.	.	ENSG00000175518	ENST00000380184	T	0.49720	0.77	4.87	2.51	0.30379	.	0.968763	0.08419	N	0.948700	T	0.22936	0.0554	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16129	-1.0413	10	0.36615	T	0.2	-7.7372	4.8712	0.13633	0.1555:0.0:0.2593:0.5852	.	143	Q8IYU4	UBQLN_HUMAN	H	143	ENSP00000369531:Q143H	ENSP00000369531:Q143H	Q	-	3	2	UBQLNL	5493819	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.243000	0.18106	0.954000	0.37851	0.533000	0.62120	CAA		0.542	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		25	59	0	0	0	1	0	25	59				
TFIP11	24144	broad.mit.edu	37	22	26902830	26902830	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr22:26902830C>T	ENST00000407690.1	-	5	557	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TFIP11_ENST00000405938.1_Missense_Mutation_p.E92K|TFIP11_ENST00000407431.1_Missense_Mutation_p.E92K|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Missense_Mutation_p.E92K	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	92					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AACTCTGCCTCCTCCGCTGCC	0.517																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(274-276)Gag>Aag		tuftelin interacting protein 11							95.0	87.0	90.0					22																	26902830		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26902830C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.274G>A	22.37:g.26902830C>T	ENSP00000384421:p.Glu92Lys					TFIP11_ENST00000407431.1_Missense_Mutation_p.E92K|TFIP11_ENST00000407148.1_Missense_Mutation_p.E92K|TFIP11_ENST00000405938.1_Missense_Mutation_p.E92K	p.E92K	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			5	557	-			92					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.274G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705256	0.48412	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938;ENST00000455080	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.38	5.38	0.77491	.	0.142348	0.64402	D	0.000007	T	0.28599	0.0708	N	0.13168	0.305	0.52501	D	0.999955	P	0.38745	0.645	B	0.41946	0.371	T	0.05767	-1.0865	10	0.06891	T	0.86	-45.9422	15.8603	0.79017	0.0:1.0:0.0:0.0	.	92	Q9UBB9	TFP11_HUMAN	K	92	ENSP00000384421:E92K;ENSP00000383892:E92K;ENSP00000385861:E92K;ENSP00000384297:E92K	ENSP00000384297:E92K	E	-	1	0	TFIP11	25232830	1.000000	0.71417	0.926000	0.36857	0.878000	0.50629	2.717000	0.47227	2.498000	0.84270	0.655000	0.94253	GAG		0.517	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		73	42	0	0	0	1	0	73	42				
ALDOA	226	broad.mit.edu	37	16	30081416	30081416	+	Intron	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr16:30081416C>T	ENST00000566897.1	+	12	2151				ALDOA_ENST00000338110.5_Intron|ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000564595.2_Intron|ALDOA_ENST00000569798.1_Silent_p.H355H|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000564546.1_Intron			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate						actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCCCTTCTCACTCCACCCCTC	0.622																																						ENST00000569798.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(1063-1065)caC>caT		aldolase A, fructose-bisphosphate							56.0	48.0	51.0					16																	30081416		2197	4300	6497	SO:0001627	intron_variant	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30081416C>T	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.1000-22C>T	16.37:g.30081416C>T						ALDOA_ENST00000566897.1_Intron|ALDOA_ENST00000564546.1_Intron|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000564595.2_Intron|ALDOA_ENST00000338110.5_Intron|ALDOA_ENST00000563060.2_Intron	p.H355H			P04075	ALDOA_HUMAN			8	1242	+			0					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Silent	SNP	ENST00000566897.1	37	c.1065C>T	CCDS10668.1																																																																																				0.622	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		16	59	0	0	0	1	0	16	59				
FMO4	2329	broad.mit.edu	37	1	171302029	171302029	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:171302029G>A	ENST00000367749.3	+	7	1139	c.809G>A	c.(808-810)gGa>gAa	p.G270E	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	270					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAGGATTATGGATTAAGTATT	0.264																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(808-810)gGa>gAa		flavin containing monooxygenase 4							67.0	67.0	67.0					1																	171302029		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171302029G>A	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.809G>A	1.37:g.171302029G>A	ENSP00000356723:p.Gly270Glu					FMO4_ENST00000462992.1_3'UTR	p.G270E	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			7	1139	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		270					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.809G>A	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306051	0.60305	.	.	ENSG00000076258	ENST00000367749	T	0.58652	0.32	5.63	5.63	0.86233	.	0.228496	0.45126	D	0.000381	T	0.75064	0.3799	M	0.81112	2.525	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.76019	-0.3112	10	0.59425	D	0.04	-20.6805	19.6448	0.95771	0.0:0.0:1.0:0.0	.	270	P31512	FMO4_HUMAN	E	270	ENSP00000356723:G270E	ENSP00000356723:G270E	G	+	2	0	FMO4	169568653	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	8.093000	0.89531	2.798000	0.96311	0.655000	0.94253	GGA		0.264	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		26	36	0	0	0	1	0	26	36				
ABCF1	23	broad.mit.edu	37	6	30547717	30547717	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:30547717G>A	ENST00000326195.8	+	7	611	c.499G>A	c.(499-501)Gag>Aag	p.E167K	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.E167K	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	167	Glu-rich.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GGCCGTATCTGAGGAACAGCA	0.453																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(499-501)Gag>Aag		ATP-binding cassette, sub-family F (GCN20), member 1							98.0	67.0	78.0					6																	30547717		1511	2709	4220	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30547717G>A	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.499G>A	6.37:g.30547717G>A	ENSP00000313603:p.Glu167Lys					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.E167K	p.E167K	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			7	611	+			167			Glu-rich.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.499G>A	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549116	0.27652	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.54071	0.59;1.03;0.93;0.78	4.31	2.36	0.29203	.	0.581521	0.17166	N	0.184466	T	0.13756	0.0333	N	0.00841	-1.15	0.80722	D	1	B;B;B	0.17465	0.008;0.008;0.022	B;B;B	0.37650	0.052;0.052;0.255	T	0.10823	-1.0613	10	0.33141	T	0.24	-21.6691	11.0237	0.47732	0.0:0.3916:0.6083:0.0	.	167;167;167	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	K	167;167;168;168;70	ENSP00000313603:E167K;ENSP00000365728:E167K;ENSP00000405512:E168K;ENSP00000440893:E70K	ENSP00000313603:E167K	E	+	1	0	ABCF1	30655696	1.000000	0.71417	0.980000	0.43619	0.867000	0.49689	1.725000	0.38074	0.923000	0.37045	0.313000	0.20887	GAG		0.453	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			27	75	0	0	0	1	0	27	75				
ERCC6L2	375748	broad.mit.edu	37	9	98775374	98775374	+	Silent	SNP	G	G	A	rs369255194		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr9:98775374G>A	ENST00000407474.3	+	4	1998	c.1485G>A	c.(1483-1485)agG>agA	p.R495R				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1525					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CCTTTAAAAGGAGAGAAGAGC	0.388																																						ENST00000407474.3																			0											c.(1483-1485)agG>agA		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2		G		0,4404		0,0,2202	38.0	43.0	41.0			2.5	0.8	9		41	1,8599		0,1,4299	no	intergenic				0,1,6501	AA,AG,GG		0.0116,0.0,0.0077			98775374	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98775374G>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.1485G>A	9.37:g.98775374G>A							p.R495R			Q5T890	RAD26_HUMAN			4	1998	+			20					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000407474.3	37	c.1485G>A		.	.	.	.	.	.	.	.	.	.	G	0.048	-1.260498	0.01445	0.0	1.16E-4	ENSG00000182150	ENST00000320486	.	.	.	5.46	2.52	0.30459	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50233	-0.8852	4	.	.	.	.	7.9063	0.29763	0.0653:0.1175:0.6955:0.1217	.	.	.	.	E	486	.	.	G	+	2	0	C9orf102	97815195	0.193000	0.23313	0.798000	0.32154	0.019000	0.09904	0.681000	0.25320	0.841000	0.35020	-0.187000	0.12897	GGA		0.388	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		25	56	0	0	0	1	0	25	56				
ROCK2	9475	broad.mit.edu	37	2	11376025	11376025	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:11376025C>T	ENST00000315872.6	-	5	974	c.526G>A	c.(526-528)Gac>Aac	p.D176N	ROCK2_ENST00000462366.1_5'UTR|ROCK2_ENST00000401753.1_5'Flank|RNU6-1081P_ENST00000384537.1_RNA	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTACAAGGTCTCCACCAGGC	0.373																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(526-528)Gac>Aac		Rho-associated, coiled-coil containing protein kinase 2							120.0	115.0	117.0					2																	11376025		2075	4234	6309	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11376025C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.526G>A	2.37:g.11376025C>T	ENSP00000317985:p.Asp176Asn					ROCK2_ENST00000462366.1_5'UTR	p.D176N	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	5	974	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		176			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.526G>A	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	36	5.654504	0.96724	.	.	ENSG00000134318	ENST00000315872	T	0.27104	1.69	5.79	5.79	0.91817	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.55655	-0.8107	10	0.87932	D	0	.	20.0155	0.97477	0.0:1.0:0.0:0.0	.	176	O75116	ROCK2_HUMAN	N	176	ENSP00000317985:D176N	ENSP00000261535:D176N	D	-	1	0	ROCK2	11293476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.742000	0.94016	0.591000	0.81541	GAC		0.373	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			25	58	0	0	0	1	0	25	58				
PPP1R3A	5506	broad.mit.edu	37	7	113558642	113558642	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:113558642A>C	ENST00000284601.3	-	1	478	c.410T>G	c.(409-411)cTt>cGt	p.L137R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	137	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGTAGACCCAAGAAGAGACTC	0.358																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(409-411)cTt>cGt		protein phosphatase 1, regulatory subunit 3A							104.0	104.0	104.0					7																	113558642		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558642A>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.410T>G	7.37:g.113558642A>C	ENSP00000284601:p.Leu137Arg						p.L137R	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	478	-			137			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.410T>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594194	0.46214	.	.	ENSG00000154415	ENST00000284601	T	0.62639	0.01	6.17	5.29	0.74685	Putative phosphatase regulatory subunit (2);	0.058358	0.64402	D	0.000001	T	0.39733	0.1089	N	0.03608	-0.345	0.21933	N	0.999467	B	0.15141	0.012	B	0.08055	0.003	T	0.36986	-0.9725	10	0.72032	D	0.01	-0.1135	12.0655	0.53586	0.0621:0.0:0.8161:0.1218	.	137	Q16821	PPR3A_HUMAN	R	137	ENSP00000284601:L137R	ENSP00000284601:L137R	L	-	2	0	PPP1R3A	113345878	1.000000	0.71417	0.974000	0.42286	0.958000	0.62258	6.220000	0.72237	0.954000	0.37851	-0.119000	0.15052	CTT		0.358	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		16	164	0	0	0	1	0	16	164				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	43	0	0	0	1	0	4	43				
ARHGAP32	9743	broad.mit.edu	37	11	128839544	128839544	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:128839544T>C	ENST00000310343.9	-	22	5521	c.5522A>G	c.(5521-5523)cAt>cGt	p.H1841R	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.H1492R|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.H1492R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1841	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GCCTCCGTGATGGTGGGCTCT	0.612																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(5521-5523)cAt>cGt		Rho GTPase activating protein 32							69.0	62.0	65.0					11																	128839544		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839544T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5522A>G	11.37:g.128839544T>C	ENSP00000310561:p.His1841Arg					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.H1492R|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.H1492R	p.H1841R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	5521	-			1841			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5522A>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	3.456	-0.111088	0.06881	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.08370	3.11;3.1;3.1	5.95	2.26	0.28386	.	0.359217	0.27544	N	0.018887	T	0.08044	0.0201	L	0.51422	1.61	0.09310	N	1	B	0.22346	0.068	B	0.19391	0.025	T	0.25779	-1.0122	10	0.72032	D	0.01	.	5.8716	0.18807	0.0:0.1363:0.263:0.6007	.	1841	A7KAX9	RHG32_HUMAN	R	1841;1492;1492	ENSP00000310561:H1841R;ENSP00000376425:H1492R;ENSP00000432862:H1492R	ENSP00000310561:H1841R	H	-	2	0	ARHGAP32	128344754	0.998000	0.40836	0.186000	0.23195	0.061000	0.15899	0.581000	0.23819	0.441000	0.26529	0.533000	0.62120	CAT		0.612	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		60	46	0	0	0	1	0	60	46				
TNPO1	3842	broad.mit.edu	37	5	72151642	72151642	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr5:72151642A>C	ENST00000337273.5	+	4	673	c.247A>C	c.(247-249)Aat>Cat	p.N83H	TNPO1_ENST00000447967.2_Missense_Mutation_p.N75H|TNPO1_ENST00000454282.1_Intron|TNPO1_ENST00000506351.2_Missense_Mutation_p.N75H|TNPO1_ENST00000513944.1_3'UTR|TNPO1_ENST00000523768.1_Intron	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	83	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTTGAAGAATAATGTGAAAGC	0.328																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(247-249)Aat>Cat		transportin 1							65.0	63.0	64.0					5																	72151642		2201	4297	6498	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72151642A>C	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.247A>C	5.37:g.72151642A>C	ENSP00000336712:p.Asn83His					TNPO1_ENST00000513944.1_3'UTR|TNPO1_ENST00000454282.1_Intron|TNPO1_ENST00000523768.1_Intron|TNPO1_ENST00000506351.2_Missense_Mutation_p.N75H|TNPO1_ENST00000447967.2_Missense_Mutation_p.N75H	p.N83H	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	4	673	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	83			Importin N-terminal.		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.247A>C	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409926	0.83340	.	.	ENSG00000083312	ENST00000337273;ENST00000447967;ENST00000506351	T;T;T	0.66638	-0.22;-0.22;-0.22	4.74	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80778	0.4688	M	0.88310	2.945	0.80722	D	1	D	0.53312	0.959	P	0.55545	0.778	D	0.84940	0.0865	10	0.62326	D	0.03	-21.0029	14.5622	0.68148	1.0:0.0:0.0:0.0	.	83	Q92973	TNPO1_HUMAN	H	83;75;75	ENSP00000336712:N83H;ENSP00000415164:N75H;ENSP00000425118:N75H	ENSP00000336712:N83H	N	+	1	0	TNPO1	72187398	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.815000	0.91973	1.908000	0.55244	0.528000	0.53228	AAT		0.328	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		13	28	0	0	0	1	0	13	28				
BCRP7	100133163	broad.mit.edu	37	22	18846140	18846140	+	3'UTR	SNP	T	T	C	rs200622823		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr22:18846140T>C	ENST00000412938.1	+	0	3498																											TAGGGCACCTTGGACCTCTCT	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18846140T>C																												ENST00000412938.1:c.*3495T>C	22.37:g.18846140T>C														0	3498	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	27	0	0	0	1	0	6	27				
COL6A6	131873	broad.mit.edu	37	3	130380668	130380668	+	Silent	SNP	T	T	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:130380668T>A	ENST00000358511.6	+	34	6049	c.6018T>A	c.(6016-6018)acT>acA	p.T2006T	COL6A6_ENST00000453409.2_Silent_p.T2006T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2006	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTTCTGTCACTGGAGACCGGG	0.507																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(6016-6018)acT>acA		collagen, type VI, alpha 6							50.0	49.0	49.0					3																	130380668		1878	4111	5989	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130380668T>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6018T>A	3.37:g.130380668T>A						COL6A6_ENST00000453409.2_Silent_p.T2006T	p.T2006T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			34	6049	+			2006			Nonhelical region.|VWFA 9.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.6018T>A	CCDS46911.1																																																																																				0.507	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		7	36	0	0	0	1	0	7	36				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709657	22709657	+	RNA	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr15:22709657C>A	ENST00000314246.8	-	0	1127				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											GGACAAGCTCCTCTCCAGCTT	0.557																																						ENST00000314246.8																			0																																																			100132979							g.chr15:22709657C>A			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709657C>A														0	1127	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	C	3.247	-0.154019	0.06585	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	-0.175	0.13315	.	.	.	.	.	T	0.44973	0.1319	.	.	.	.	.	.	D	0.59767	0.986	P	0.54100	0.742	T	0.51702	-0.8672	6	0.52906	T	0.07	.	4.7384	0.13001	0.0:0.4404:0.5596:0.0	.	77	F8WBT8	.	M	77;77;295	.	ENSP00000327024:R77M	R	-	2	0	AC116165.1	20261021	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.074000	0.11450	-0.034000	0.13713	0.274000	0.19336	AGG		0.557	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		51	231	1	0	2.2129e-31	1	2.56002e-31	51	231				
PHF21A	51317	broad.mit.edu	37	11	45970983	45970983	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:45970983C>T	ENST00000418153.2	-	12	1393	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	PHF21A_ENST00000257821.4_Silent_p.P399P|PHF21A_ENST00000323180.6_Silent_p.P399P|PHF21A_ENST00000527753.1_5'UTR			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	398					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CACTGTAGACCGGATTTGCTG	0.458																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1195-1197)ccG>ccA		PHD finger protein 21A							277.0	254.0	262.0					11																	45970983		2202	4299	6501	SO:0001819	synonymous_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45970983C>T	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1194G>A	11.37:g.45970983C>T						PHF21A_ENST00000418153.2_Silent_p.P398P|PHF21A_ENST00000323180.6_Silent_p.P399P|PHF21A_ENST00000527753.1_5'UTR	p.P399P	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			12	1820	-			398					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	c.1197G>A	CCDS44578.1																																																																																				0.458	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		21	108	0	0	0	1	0	21	108				
TP53	7157	broad.mit.edu	37	17	7578431	7578431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr17:7578431G>A	ENST00000269305.4	-	5	688	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q167*	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	167	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (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.Q167*(23)|p.0?(8)|p.Q167fs*13(3)|p.Q167fs*14(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(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)	GTCATGTGCTGTGACTGCTTG	0.642		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"""		53	Substitution - Nonsense(25)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Substitution - Missense(2)|Complex - compound substitution(1)	p.Q167*(23)|p.0?(8)|p.Q167fs*13(3)|p.Q167fs*14(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(1)	upper_aerodigestive_tract(9)|lung(8)|oesophagus(8)|large_intestine(7)|breast(5)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|soft_tissue(1)|urinary_tract(1)|ovary(1)|liver(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	CM942118	TP53	M		c.(499-501)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							54.0	54.0	54.0					17																	7578431		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578431G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.499C>T	17.37:g.7578431G>A	ENSP00000269305:p.Gln167*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000574684.1_5'UTR	p.Q167*	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)	5	631	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	167		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.499C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772268	0.49680	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	.	0.106561	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.276	12.4331	0.55584	0.0:0.6985:0.3015:0.0	.	.	.	.	X	167;167;167;167;167;167;156;74;35;74;35	.	ENSP00000269305:Q167X	Q	-	1	0	TP53	7519156	1.000000	0.71417	0.013000	0.15412	0.114000	0.19823	5.156000	0.64905	1.520000	0.48965	0.655000	0.94253	CAG		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		39	30	0	0	0	1	0	39	30				
KLK8	11202	broad.mit.edu	37	19	51503709	51503709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:51503709C>T	ENST00000600767.1	-	4	690	c.201G>A	c.(199-201)tgG>tgA	p.W67*	KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000598195.1_5'Flank|KLK8_ENST00000391806.2_Nonsense_Mutation_p.W112*|KLK8_ENST00000291726.7_Nonsense_Mutation_p.W67*|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	67	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CTGTAAGGACCCAGTTGCCAC	0.592																																						ENST00000600767.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15						c.(199-201)tgG>tgA		kallikrein-related peptidase 8							68.0	71.0	70.0					19																	51503709		2203	4300	6503	SO:0001587	stop_gained	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51503709C>T	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.201G>A	19.37:g.51503709C>T	ENSP00000472016:p.Trp67*					KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Nonsense_Mutation_p.W67*|KLK8_ENST00000391806.2_Nonsense_Mutation_p.W112*|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA	p.W67*			O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	4	690	-		all_neural(266;0.026)	67			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Nonsense_Mutation	SNP	ENST00000600767.1	37	c.201G>A	CCDS12813.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706910	0.89018	.	.	ENSG00000129455	ENST00000391806;ENST00000291726	.	.	.	4.72	3.68	0.42216	.	0.000000	0.43110	D	0.000607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1828	0.54221	0.1715:0.8285:0.0:0.0	.	.	.	.	X	112;67	.	ENSP00000291726:W67X	W	-	3	0	KLK8	56195521	1.000000	0.71417	0.848000	0.33437	0.547000	0.35210	3.809000	0.55606	1.191000	0.43056	0.561000	0.74099	TGG		0.592	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		30	172	0	0	0	1	0	30	172				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		6	299	0	0	0	1	0	6	299				
NLRP11	204801	broad.mit.edu	37	19	56329372	56329372	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:56329372G>T	ENST00000589093.1	-	2	262	c.169C>A	c.(169-171)Cca>Aca	p.P57T	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000360133.3_Missense_Mutation_p.P57T|NLRP11_ENST00000443188.1_Missense_Mutation_p.P57T|NLRP11_ENST00000589824.2_Missense_Mutation_p.P57T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	57	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TAAGAGATTGGCAACACGTTA	0.388																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(169-171)Cca>Aca		NLR family, pyrin domain containing 11							174.0	159.0	164.0					19																	56329372		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56329372G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.169C>A	19.37:g.56329372G>T	ENSP00000466285:p.Pro57Thr					NLRP11_ENST00000589093.1_Missense_Mutation_p.P57T|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.P57T|NLRP11_ENST00000360133.3_Missense_Mutation_p.P57T	p.P57T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	879	-		Colorectal(82;0.0002)	57			DAPIN.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.169C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	1.332	-0.596574	0.03771	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.46819	0.86;0.86	2.84	-5.25	0.02781	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.18551	0.0445	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.18871	0.023	T	0.30736	-0.9968	9	0.06236	T	0.91	.	6.3276	0.21253	0.0:0.4579:0.326:0.2162	.	57	P59045	NAL11_HUMAN	T	57	ENSP00000409898:P57T;ENSP00000353251:P57T	ENSP00000353251:P57T	P	-	1	0	NLRP11	61021184	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.594000	0.05733	-1.540000	0.01730	-1.067000	0.02272	CCA		0.388	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		19	113	1	0	7.45023e-12	1	8.25471e-12	19	113				
RANBP6	26953	broad.mit.edu	37	9	6015065	6015065	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr9:6015065G>C	ENST00000259569.5	-	1	553	c.543C>G	c.(541-543)atC>atG	p.I181M	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	181					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACAACCGTTTGATGATATCCA	0.433																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(541-543)atC>atG		RAN binding protein 6							73.0	66.0	68.0					9																	6015065		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6015065G>C	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.543C>G	9.37:g.6015065G>C	ENSP00000259569:p.Ile181Met					RANBP6_ENST00000485372.1_Intron	p.I181M	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	553	-		Acute lymphoblastic leukemia(23;0.158)	181					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.543C>G	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098684	0.37048	.	.	ENSG00000137040	ENST00000259569	T	0.72167	-0.63	4.64	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	L	0.60455	1.87	0.58432	D	0.999997	P	0.50943	0.94	P	0.46585	0.521	T	0.75545	-0.3280	10	0.59425	D	0.04	-5.3556	15.8307	0.78749	0.0:0.0:1.0:0.0	.	181	O60518	RNBP6_HUMAN	M	181	ENSP00000259569:I181M	ENSP00000259569:I181M	I	-	3	3	RANBP6	6005065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.873000	0.56093	2.861000	0.98227	0.655000	0.94253	ATC		0.433	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		19	43	0	0	0	1	0	19	43				
KIF2A	3796	broad.mit.edu	37	5	61659554	61659554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr5:61659554C>A	ENST00000401507.3	+	14	1606	c.1295C>A	c.(1294-1296)tCa>tAa	p.S432*	KIF2A_ENST00000407818.3_Nonsense_Mutation_p.S432*|KIF2A_ENST00000381103.2_Nonsense_Mutation_p.S412*|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Nonsense_Mutation_p.S386*	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	432	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		AATGCACATTCATCTCGGAGC	0.353																																						ENST00000381103.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15						c.(1234-1236)tCa>tAa		kinesin heavy chain member 2A							100.0	104.0	103.0					5																	61659554		2203	4300	6503	SO:0001587	stop_gained	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61659554C>A	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1295C>A	5.37:g.61659554C>A	ENSP00000385622:p.Ser432*					KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Nonsense_Mutation_p.S432*|KIF2A_ENST00000407818.3_Nonsense_Mutation_p.S432*|KIF2A_ENST00000506857.1_Nonsense_Mutation_p.S386*	p.S412*	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN		Lung(70;0.14)	15	1720	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	432			Kinesin-motor.		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Nonsense_Mutation	SNP	ENST00000401507.3	37	c.1235C>A	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	C	41	8.627093	0.98890	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	.	.	.	X	432;412;432;386	.	ENSP00000370493:S412X	S	+	2	0	KIF2A	61695311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.713000	0.84693	2.746000	0.94184	0.655000	0.94253	TCA		0.353	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		38	34	1	0	2.54354e-34	1	2.95702e-34	38	34				
PDE4DIP	9659	broad.mit.edu	37	1	144930711	144930711	+	Intron	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:144930711C>G	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S333T|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S333T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAAACCGGAACTAACTCCATC	0.527			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(997-999)aGt>aCt		phosphodiesterase 4D interacting protein							109.0	115.0	113.0					1																	144930711		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144930711C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6890G>C	1.37:g.144930711C>G						PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S333T|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron	p.S333T			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1437	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.998G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990439	0.35131	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.12672	2.66;2.66	5.58	5.58	0.84498	.	.	.	.	.	T	0.08670	0.0215	L	0.50333	1.59	0.80722	D	1	P	0.35272	0.493	B	0.33042	0.157	T	0.05632	-1.0873	9	0.41790	T	0.15	.	17.1327	0.86730	0.0:1.0:0.0:0.0	.	333	Q5VU43-2	.	T	333	ENSP00000316434:S333T;ENSP00000433392:S333T	ENSP00000316434:S333T	S	-	2	0	PDE4DIP	143642068	0.995000	0.38212	0.995000	0.50966	0.610000	0.37248	3.080000	0.50112	2.642000	0.89623	0.650000	0.86243	AGT		0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		90	177	0	0	0	1	0	90	177				
YEATS2	55689	broad.mit.edu	37	3	183474315	183474315	+	Splice_Site	SNP	G	G	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:183474315G>T	ENST00000305135.5	+	12	1585		c.e12-1			NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAATTAATAAGGTTCCCCAAT	0.443																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.e12-1		YEATS domain containing 2							89.0	94.0	92.0					3																	183474315		1891	4113	6004	SO:0001630	splice_region_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183474315G>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1391-1G>T	3.37:g.183474315G>T								NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		12	1585	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)							A7E2B9|D3DNS9|Q641P6|Q9NW96	Splice_Site	SNP	ENST00000305135.5	37		CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626548	0.87560	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7256	0.88364	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YEATS2	184957009	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.148000	0.89630	2.629000	0.89072	0.655000	0.94253	.		0.443	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	Intron	18	199	1	0	6.94344e-10	1	7.58635e-10	18	199				
RTKN	6242	broad.mit.edu	37	2	74656049	74656049	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:74656049A>C	ENST00000233330.6	-	7	943	c.626T>G	c.(625-627)tTg>tGg	p.L209W	RTKN_ENST00000305557.5_Missense_Mutation_p.L246W|RTKN_ENST00000272430.5_Missense_Mutation_p.L259W	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GGTGTGAGCCAAGAGGTGGTA	0.567																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(736-738)tTg>tGg		rhotekin							187.0	122.0	144.0					2																	74656049		2203	4300	6503	SO:0001583	missense	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74656049A>C	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.626T>G	2.37:g.74656049A>C	ENSP00000233330:p.Leu209Trp					RTKN_ENST00000233330.6_Missense_Mutation_p.L209W|RTKN_ENST00000272430.5_Missense_Mutation_p.L259W	p.L246W	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			8	1322	-			259						Missense_Mutation	SNP	ENST00000233330.6	37	c.737T>G	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.784482	0.90282	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.52295	0.67;0.67;0.67	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.65176	0.2666	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66069	-0.6015	10	0.49607	T	0.09	.	13.6415	0.62253	1.0:0.0:0.0:0.0	.	259;246	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	W	246;259;209	ENSP00000305298:L246W;ENSP00000272430:L259W;ENSP00000233330:L209W	ENSP00000233330:L209W	L	-	2	0	RTKN	74509557	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.673000	0.91186	2.128000	0.65567	0.459000	0.35465	TTG		0.567	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		10	68	0	0	0	1	0	10	68				
UBA1	7317	broad.mit.edu	37	X	47058499	47058499	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chrX:47058499G>A	ENST00000335972.6	+	3	353	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	UBA1_ENST00000377351.4_Missense_Mutation_p.R57Q	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	57					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTTACTCCCGGCAGCTGTAA	0.557																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(169-171)cGg>cAg		ubiquitin-like modifier activating enzyme 1							69.0	68.0	68.0					X																	47058499		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47058499G>A	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.170G>A	X.37:g.47058499G>A	ENSP00000338413:p.Arg57Gln					UBA1_ENST00000377351.4_Missense_Mutation_p.R57Q	p.R57Q	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			3	353	+			57					Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.170G>A	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253192	0.95336	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000427561;ENST00000442035;ENST00000457753;ENST00000335972;ENST00000451702	T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.07	5.07	0.68467	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84023	0.5381	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86996	0.2113	10	0.87932	D	0	-26.5086	16.4416	0.83903	0.0:0.0:1.0:0.0	.	57	P22314	UBA1_HUMAN	Q	57;57;71;71;108;57;108	ENSP00000366568:R57Q;ENSP00000415033:R57Q;ENSP00000397816:R71Q;ENSP00000389583:R71Q;ENSP00000404796:R108Q;ENSP00000338413:R57Q;ENSP00000401101:R108Q	ENSP00000338413:R57Q	R	+	2	0	UBA1	46943443	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.219000	0.78000	2.491000	0.84063	0.597000	0.82753	CGG		0.557	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		24	45	0	0	0	1	0	24	45				
DZIP3	9666	broad.mit.edu	37	3	108366924	108366924	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:108366924G>A	ENST00000361582.3	+	16	2157	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	DZIP3_ENST00000463306.1_Missense_Mutation_p.E643K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	643					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AATACCCAGTGAATCTTCAAC	0.358																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1927-1929)Gaa>Aaa		DAZ interacting zinc finger protein 3							92.0	100.0	98.0					3																	108366924		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108366924G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1927G>A	3.37:g.108366924G>A	ENSP00000355028:p.Glu643Lys					DZIP3_ENST00000463306.1_Missense_Mutation_p.E643K	p.E643K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			16	2157	+			643					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1927G>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599901	0.87055	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.40756	1.02;1.02;1.02	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000019	T	0.57154	0.2034	L	0.47716	1.5	0.37178	D	0.903366	D;D;D	0.67145	0.993;0.996;0.993	D;D;D	0.77557	0.971;0.99;0.978	T	0.63242	-0.6681	10	0.72032	D	0.01	-25.6039	14.2623	0.66092	0.0:0.0:1.0:0.0	.	261;643;643	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	K	643	ENSP00000355028:E643K;ENSP00000418115:E643K;ENSP00000419981:E643K	ENSP00000355028:E643K	E	+	1	0	DZIP3	109849614	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.235000	0.58666	2.730000	0.93505	0.644000	0.83932	GAA		0.358	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		30	91	0	0	0	1	0	30	91				
SMYD3	64754	broad.mit.edu	37	1	246027161	246027161	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:246027161G>T	ENST00000388985.4	-	9	840	c.841C>A	c.(841-843)Caa>Aaa	p.Q281K	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Missense_Mutation_p.Q222K|SMYD3_ENST00000490107.1_Missense_Mutation_p.Q222K			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	281					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TTCCATACTTGCTCATCACCA	0.428																																						ENST00000490107.1																			0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(664-666)Caa>Aaa		SET and MYND domain containing 3							158.0	140.0	146.0					1																	246027161		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246027161G>T	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.841C>A	1.37:g.246027161G>T	ENSP00000373637:p.Gln281Lys					SMYD3_ENST00000388985.4_Missense_Mutation_p.Q281K|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Missense_Mutation_p.Q222K	p.Q222K	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	9	880	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	281			SET.		A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.664C>A	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	G	2.414	-0.334729	0.05278	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985;ENST00000391836	T;T;T;T	0.41758	2.0;2.0;2.0;0.99	5.66	1.19	0.21007	.	1.167200	0.05985	N	0.645066	T	0.23846	0.0577	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17379	-1.0371	10	0.05959	T	0.93	-30.5059	9.5039	0.39035	0.0:0.2221:0.4711:0.3068	.	281;92	Q9H7B4;B3KN46	SMYD3_HUMAN;.	K	222;222;111;281;92	ENSP00000444184:Q222K;ENSP00000419184:Q222K;ENSP00000373637:Q281K;ENSP00000375712:Q92K	ENSP00000373637:Q281K	Q	-	1	0	SMYD3	244093784	0.004000	0.15560	0.116000	0.21606	0.993000	0.82548	0.809000	0.27168	-0.052000	0.13311	0.585000	0.79938	CAA		0.428	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		7	44	1	0	3.09899e-07	1	3.33955e-07	7	44				
NXF4	55999	broad.mit.edu	37	X	101805040	101805040	+	RNA	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chrX:101805040G>A	ENST00000360035.2	+	0	148					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						GGTTAAGGGGGATCCTGAGCA	0.537																																						ENST00000360035.2																			0				endometrium(2)|lung(8)	10																																														55999							g.chrX:101805040G>A	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101805040G>A								NR_002216.1						0	148	+									RNA	SNP	ENST00000360035.2	37																																																																																						0.537	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			42	54	0	0	0	1	0	42	54				
ZNF512B	57473	broad.mit.edu	37	20	62631033	62631033	+	Intron	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr20:62631033C>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.S315L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGATTGCATCAGCCCGCCTG	0.562																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(943-945)tCa>tTa		pre-mRNA processing factor 6							84.0	71.0	76.0					20																	62631033		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62631033C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31725G>A	20.37:g.62631033C>T						ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	p.S315L			O94906	PRP6_HUMAN			8	1055	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		315					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.944C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000507	0.93227	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.31247	1.5;1.5	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.119371	0.64402	D	0.000015	T	0.44286	0.1286	M	0.73372	2.23	0.80722	D	1	P;P	0.40398	0.566;0.716	B;P	0.45794	0.419;0.493	T	0.19778	-1.0295	10	0.29301	T	0.29	.	19.5296	0.95223	0.0:1.0:0.0:0.0	.	315;315	O94906-2;O94906	.;PRP6_HUMAN	L	315	ENSP00000266079:S315L;ENSP00000446216:S315L	ENSP00000266079:S315L	S	+	2	0	PRPF6	62101477	1.000000	0.71417	0.396000	0.26296	0.751000	0.42716	7.258000	0.78371	2.617000	0.88574	0.644000	0.83932	TCA		0.562	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		17	60	0	0	0	1	0	17	60				
ABCC6	368	broad.mit.edu	37	16	16284174	16284174	+	Silent	SNP	G	G	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr16:16284174G>T	ENST00000205557.7	-	12	1511	c.1482C>A	c.(1480-1482)atC>atA	p.I494I	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	494	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AGTTCCTGAGGATAGAGCTGG	0.582																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(1480-1482)atC>atA		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							89.0	86.0	87.0					16																	16284174		2197	4300	6497	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16284174G>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1482C>A	16.37:g.16284174G>T						ABCC6_ENST00000574094.1_5'UTR	p.I494I	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	12	1511	-			494			ABC transmembrane type-1 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.1482C>A	CCDS10568.1																																																																																				0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			67	56	1	0	1.32218e-49	1	1.54472e-49	67	56				
MEN1	4221	broad.mit.edu	37	11	64572247	64572247	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:64572247C>T	ENST00000337652.1	-	10	1910	c.1407G>A	c.(1405-1407)gcG>gcA	p.A469A	MEN1_ENST00000377326.3_Silent_p.A464A|MEN1_ENST00000312049.6_Silent_p.A464A|MEN1_ENST00000443283.1_Silent_p.A469A|MEN1_ENST00000377316.2_Silent_p.A409A|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000394376.1_Silent_p.A469A|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000315422.4_Silent_p.A464A|MEN1_ENST00000377313.1_Silent_p.A469A|MEN1_ENST00000377321.1_Silent_p.A429A|MEN1_ENST00000394374.2_Silent_p.A469A|MAP4K2_ENST00000294066.2_5'Flank	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	469					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CGGCCTCGGCCGCCTCGGCCT	0.726			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CD035819	MEN1	D		c.(1405-1407)gcG>gcA		multiple endocrine neoplasia I							22.0	26.0	25.0					11																	64572247		1845	3816	5661	SO:0001819	synonymous_variant	4221	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572247C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1407G>A	11.37:g.64572247C>T						MEN1_ENST00000394374.2_Silent_p.A469A|MEN1_ENST00000394376.1_Silent_p.A469A|MEN1_ENST00000315422.4_Silent_p.A464A|MEN1_ENST00000312049.6_Silent_p.A464A|MEN1_ENST00000443283.1_Silent_p.A469A|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Silent_p.A409A|MEN1_ENST00000377321.1_Silent_p.A429A|MEN1_ENST00000377313.1_Silent_p.A469A|MEN1_ENST00000377326.3_Silent_p.A464A	p.A469A	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			10	1910	-			469					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.1407G>A	CCDS8083.1																																																																																				0.726	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			12	55	0	0	0	1	0	12	55				
ATP5J	522	broad.mit.edu	37	21	27097603	27097603	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr21:27097603G>C	ENST00000400093.3	-	3	914	c.223C>G	c.(223-225)Ctt>Gtt	p.L75V	ATP5J_ENST00000400094.1_Missense_Mutation_p.L75V|ATP5J_ENST00000400090.3_Missense_Mutation_p.L75V|ATP5J_ENST00000457143.2_Missense_Mutation_p.L83V|ATP5J_ENST00000400087.3_Missense_Mutation_p.L75V|ATP5J_ENST00000400099.1_Missense_Mutation_p.L75V|ATP5J_ENST00000284971.3_Missense_Mutation_p.L75V	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	75					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						AGCTTAAAAAGCTCCCTCTCC	0.373																																					Colon(101;404 1513 9184 32221 46005)	ENST00000400093.3																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						c.(223-225)Ctt>Gtt		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6							82.0	74.0	77.0					21																	27097603		2203	4300	6503	SO:0001583	missense	522				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr21:27097603G>C	M37104	CCDS13574.1, CCDS46637.1	21q21.1	2012-10-12	2010-06-11		ENSG00000154723	ENSG00000154723		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	847	protein-coding gene	gene with protein product	"""coupling factor 6"""	603152	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6"""	ATP5A, ATP5, ATPM		1830479, 1825642	Standard	NM_001685		Approved	CF6	uc002ylt.3	P18859	OTTHUMG00000078442	ENST00000400093.3:c.223C>G	21.37:g.27097603G>C	ENSP00000382965:p.Leu75Val					ATP5J_ENST00000400094.1_Missense_Mutation_p.L75V|ATP5J_ENST00000457143.2_Missense_Mutation_p.L83V|ATP5J_ENST00000284971.3_Missense_Mutation_p.L75V|ATP5J_ENST00000400087.3_Missense_Mutation_p.L75V|ATP5J_ENST00000400099.1_Missense_Mutation_p.L75V|ATP5J_ENST00000400090.3_Missense_Mutation_p.L75V	p.L75V	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN			3	914	-			75					J3KQ83	Missense_Mutation	SNP	ENST00000400093.3	37	c.223C>G	CCDS13574.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271833	0.23221	.	.	ENSG00000154723	ENST00000400099;ENST00000400094;ENST00000284971;ENST00000457143;ENST00000400090;ENST00000400087;ENST00000400093	.	.	.	5.41	3.56	0.40772	.	0.319059	0.29767	N	0.011256	T	0.40067	0.1102	M	0.65320	2	0.30518	N	0.768733	B;B	0.21606	0.058;0.058	B;B	0.19666	0.026;0.026	T	0.44267	-0.9339	9	0.51188	T	0.08	-15.8467	4.3999	0.11381	0.0783:0.1338:0.5125:0.2753	.	75;75	Q6IB54;P18859	.;ATP5J_HUMAN	V	75;75;75;83;75;75;75	.	ENSP00000284971:L75V	L	-	1	0	ATP5J	26019474	0.989000	0.36119	1.000000	0.80357	0.439000	0.31926	0.835000	0.27531	1.398000	0.46701	0.650000	0.86243	CTT		0.373	ATP5J-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171357.1	NM_001685		13	35	0	0	0	1	0	13	35				
SETD5	55209	broad.mit.edu	37	3	9476521	9476521	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:9476521G>A	ENST00000406341.1	+	5	533	c.343G>A	c.(343-345)Ggg>Agg	p.G115R	SETD5_ENST00000302463.6_Missense_Mutation_p.G4R|SETD5_ENST00000402198.1_Missense_Mutation_p.G115R|SETD5_ENST00000407969.1_Missense_Mutation_p.G134R|SETD5_ENST00000402466.1_Missense_Mutation_p.G4R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	115										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AATGAGCAGGGGGAAGGTTAT	0.443																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(10-12)Ggg>Agg		SET domain containing 5							76.0	73.0	74.0					3																	9476521		1957	4166	6123	SO:0001583	missense	55209							g.chr3:9476521G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.343G>A	3.37:g.9476521G>A	ENSP00000383939:p.Gly115Arg					SETD5_ENST00000402198.1_Missense_Mutation_p.G115R|SETD5_ENST00000407969.1_Missense_Mutation_p.G134R|SETD5_ENST00000406341.1_Missense_Mutation_p.G115R|SETD5_ENST00000302463.6_Missense_Mutation_p.G4R	p.G4R			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	6	778	+	Medulloblastoma(99;0.227)		115					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.10G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374277	0.61735	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	T;D;D;D;D;T;D	0.91945	1.59;-2.59;-2.94;-2.59;-2.56;0.96;-2.94	5.46	5.46	0.80206	.	0.062467	0.64402	D	0.000002	D	0.93281	0.7859	L	0.34521	1.04	0.47698	D	0.99949	D;P;B	0.62365	0.991;0.787;0.409	P;B;B	0.62435	0.902;0.413;0.183	D	0.92903	0.6341	10	0.45353	T	0.12	-3.3638	19.6537	0.95828	0.0:0.0:1.0:0.0	.	4;115;134	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	R	115;115;4;115;134;4;4	ENSP00000413786:G115R;ENSP00000385852:G115R;ENSP00000384429:G4R;ENSP00000383939:G115R;ENSP00000384114:G134R;ENSP00000408837:G4R;ENSP00000302028:G4R	ENSP00000302028:G4R	G	+	1	0	SETD5	9451521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.577000	0.74027	2.720000	0.93068	0.591000	0.81541	GGG		0.443	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	34	0	0	0	1	0	5	34				
IGKV1-5	28299	broad.mit.edu	37	2	89247307	89247307	+	RNA	SNP	C	C	G	rs370277802	byFrequency	TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:89247307C>G	ENST00000496168.1	-	0	168							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TGTGTCCTGACTGGGTCTGAC	0.562													.|||	144	0.028754	0.084	0.0144	5008	,	,		8689	0.005		0.0119	False		,,,				2504	0.0061					ENST00000496168.1																			0																				117.0	115.0	116.0					2																	89247307		1247	2546	3793			28299							g.chr2:89247307C>G	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89247307C>G														0	168	-									RNA	SNP	ENST00000496168.1	37																																																																																						0.562	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		5	160	0	0	0	1	0	5	160				
TECTA	7007	broad.mit.edu	37	11	121008505	121008505	+	Missense_Mutation	SNP	G	G	A	rs144844263		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:121008505G>A	ENST00000392793.1	+	11	3588	c.3317G>A	c.(3316-3318)gGc>gAc	p.G1106D	TECTA_ENST00000264037.2_Missense_Mutation_p.G1106D			O75443	TECTA_HUMAN	tectorin alpha	1106	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCAGGCTACGGCCACTACCTC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		21815	0.0		0.001	False		,,,				2504	0.0					ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(3316-3318)gGc>gAc		tectorin alpha		G	ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	120.0	86.0	97.0		3317	4.3	1.0	11	dbSNP_134	97	3,8595	3.0+/-9.4	0,3,4296	yes	missense	TECTA	NM_005422.2	94	0,4,6498	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	1106/2156	121008505	4,13000	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121008505G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3317G>A	11.37:g.121008505G>A	ENSP00000376543:p.Gly1106Asp					TECTA_ENST00000264037.2_Missense_Mutation_p.G1106D	p.G1106D			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	11	3588	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1106			VWFD 3.			Missense_Mutation	SNP	ENST00000392793.1	37	c.3317G>A	CCDS8434.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.33	3.363487	0.61513	2.27E-4	3.49E-4	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60040	0.22;0.22	5.23	4.32	0.51571	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.65975	2.015	0.41506	D	0.988317	D	0.71674	0.998	D	0.63793	0.918	T	0.73541	-0.3950	10	0.52906	T	0.07	.	13.6353	0.62219	0.0745:0.0:0.9255:0.0	.	1106	O75443	TECTA_HUMAN	D	1106	ENSP00000376543:G1106D;ENSP00000264037:G1106D	ENSP00000264037:G1106D	G	+	2	0	TECTA	120513715	1.000000	0.71417	0.966000	0.40874	0.933000	0.57130	6.484000	0.73621	1.194000	0.43101	0.655000	0.94253	GGC		0.582	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		27	28	0	0	0	1	0	27	28				
COL5A3	50509	broad.mit.edu	37	19	10116617	10116617	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:10116617C>T	ENST00000264828.3	-	3	377	c.292G>A	c.(292-294)Gga>Aga	p.G98R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	98	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCTGGCTGTCCCCGCAAGGTG	0.617																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(292-294)Gga>Aga		collagen, type V, alpha 3							39.0	41.0	40.0					19																	10116617		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10116617C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.292G>A	19.37:g.10116617C>T	ENSP00000264828:p.Gly98Arg						p.G98R	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		3	377	-			98			TSP N-terminal.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.292G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043184	0.36085	.	.	ENSG00000080573	ENST00000264828	T	0.02050	4.48	4.02	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.257927	0.31233	U	0.008005	T	0.02848	0.0085	L	0.44542	1.39	0.24505	N	0.994237	B	0.34015	0.435	B	0.32533	0.147	T	0.36480	-0.9746	10	0.66056	D	0.02	.	11.5368	0.50641	0.0:1.0:0.0:0.0	.	98	P25940	CO5A3_HUMAN	R	98	ENSP00000264828:G98R	ENSP00000264828:G98R	G	-	1	0	COL5A3	9977617	0.009000	0.17119	0.218000	0.23776	0.088000	0.18126	0.145000	0.16157	2.096000	0.63516	0.462000	0.41574	GGA		0.617	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		29	40	0	0	0	1	0	29	40				
COPA	1314	broad.mit.edu	37	1	160261152	160261152	+	Silent	SNP	G	G	C	rs200623238		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:160261152G>C	ENST00000241704.7	-	31	3622	c.3393C>G	c.(3391-3393)ctC>ctG	p.L1131L	COPA_ENST00000368069.3_Silent_p.L1140L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1131					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTTGGGCCCGAGTTCTAGTA	0.547											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(3391-3393)ctC>ctG		coatomer protein complex, subunit alpha							92.0	90.0	91.0					1																	160261152		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160261152G>C	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3393C>G	1.37:g.160261152G>C			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Silent_p.L1140L	p.L1131L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		31	3622	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1131					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.3393C>G	CCDS1202.1																																																																																				0.547	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		38	81	0	0	0	1	0	38	81				
UBA1	7317	broad.mit.edu	37	X	47058202	47058202	+	Splice_Site	SNP	A	A	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chrX:47058202A>T	ENST00000335972.6	+	2	184	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	UBA1_ENST00000377351.4_Splice_Site_p.M1L	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTCCTCCAGATGTCCAGCTC	0.542																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e2-1		ubiquitin-like modifier activating enzyme 1							59.0	52.0	54.0					X																	47058202		2203	4300	6503	SO:0001630	splice_region_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47058202A>T	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1-1A>T	X.37:g.47058202A>T						UBA1_ENST00000377351.4_Splice_Site_p.M1_splice	p.M1_splice	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			2	184	+			1					Q5JRR8|Q96E13	Splice_Site	SNP	ENST00000335972.6	37	c.0_splice	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298806	0.81025	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000427561;ENST00000442035;ENST00000457753;ENST00000335972;ENST00000451702	T;T;D;T;T;T;T	0.82619	1.12;0.08;-1.63;0.01;-1.16;1.12;-0.72	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	.	.	.	0.80722	D	1	P	0.35745	0.518	P	0.44647	0.456	T	0.80708	-0.1262	8	.	.	.	-27.2046	13.4039	0.60900	1.0:0.0:0.0:0.0	.	1	P22314	UBA1_HUMAN	L	1;1;15;15;52;1;52	ENSP00000366568:M1L;ENSP00000415033:M1L;ENSP00000397816:M15L;ENSP00000389583:M15L;ENSP00000404796:M52L;ENSP00000338413:M1L;ENSP00000401101:M52L	.	M	+	1	0	UBA1	46943146	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.467000	0.90390	1.876000	0.54355	0.483000	0.47432	ATG		0.542	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	Missense_Mutation	9	21	0	0	0	1	0	9	21				
PSMB9	5698	broad.mit.edu	37	6	32825906	32825906	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:32825906G>T	ENST00000374859.2	+	4	454	c.385G>T	c.(385-387)Ggt>Tgt	p.G129C	PSMB9_ENST00000453265.2_Missense_Mutation_p.G85C|PSMB9_ENST00000395330.1_Missense_Mutation_p.G106C	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	129					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	ACGTGAAGGAGGTCAGGTGAG	0.488																																						ENST00000395330.1																			0				large_intestine(4)|lung(4)|skin(1)	9						c.(316-318)Ggt>Tgt		proteasome (prosome, macropain) subunit, beta type, 9							114.0	122.0	119.0					6																	32825906		1508	2709	4217	SO:0001583	missense	5698				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr6:32825906G>T		CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"""Proteasome (prosome, macropain) subunits"""	9546	protein-coding gene	gene with protein product		177045	"""proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)"", ""large multifunctional peptidase 2"""	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.385G>T	6.37:g.32825906G>T	ENSP00000363993:p.Gly129Cys					PSMB9_ENST00000374859.2_Missense_Mutation_p.G129C|PSMB9_ENST00000453265.2_Missense_Mutation_p.G85C	p.G106C			P28065	PSB9_HUMAN			4	464	+			129					B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	ENST00000374859.2	37	c.316G>T	CCDS4759.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118342	0.77323	.	.	ENSG00000240065	ENST00000395330;ENST00000414474;ENST00000374859;ENST00000453265;ENST00000395333	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.87	4.87	0.63330	.	0.112750	0.64402	D	0.000013	T	0.55497	0.1924	M	0.93720	3.45	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67929	-0.5543	10	0.87932	D	0	-27.4935	15.5734	0.76356	0.0:0.0:1.0:0.0	.	85;129	B4DZW2;P28065	.;PSB9_HUMAN	C	106;106;129;85;85	ENSP00000378739:G106C;ENSP00000394363:G106C;ENSP00000363993:G129C;ENSP00000394773:G85C	ENSP00000363993:G129C	G	+	1	0	PSMB9	32933884	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.289000	0.65656	2.527000	0.85204	0.643000	0.83706	GGT		0.488	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076624.5	NM_002800		14	54	1	0	1.3612e-06	1	1.45359e-06	14	54				
MPHOSPH9	10198	broad.mit.edu	37	12	123679044	123679044	+	Missense_Mutation	SNP	G	G	C	rs374583306		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr12:123679044G>C	ENST00000606320.1	-	13	2336	c.2130C>G	c.(2128-2130)atC>atG	p.I710M	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.I558M|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.I680M|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.I558M			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	710						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTAGTCGAATGATGGTATTGT	0.358																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2128-2130)atC>atG		M-phase phosphoprotein 9							194.0	164.0	174.0					12																	123679044		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123679044G>C	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2130C>G	12.37:g.123679044G>C	ENSP00000475489:p.Ile710Met					MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.I680M|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.I558M|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.I558M	p.I710M			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	13	2336	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		558					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2130C>G		.	.	.	.	.	.	.	.	.	.	G	16.25	3.070154	0.55539	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.78126	-1.15;-1.15	5.52	1.74	0.24563	.	0.327261	0.29165	N	0.012954	D	0.84479	0.5481	M	0.68952	2.095	0.36051	D	0.840731	D	0.89917	1.0	D	0.91635	0.999	D	0.85704	0.1315	10	0.87932	D	0	-14.415	10.2337	0.43270	0.2519:0.0:0.7481:0.0	.	558	Q99550	MPP9_HUMAN	M	558	ENSP00000303597:I558M;ENSP00000445859:I558M	ENSP00000303597:I558M	I	-	3	3	MPHOSPH9	122244997	1.000000	0.71417	0.745000	0.31077	0.994000	0.84299	0.751000	0.26348	0.059000	0.16252	0.655000	0.94253	ATC		0.358	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			24	13	0	0	0	1	0	24	13				
WDFY3	23001	broad.mit.edu	37	4	85722859	85722859	+	Silent	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr4:85722859G>A	ENST00000295888.4	-	17	3173	c.2766C>T	c.(2764-2766)ccC>ccT	p.P922P	WDFY3_ENST00000512267.1_5'Flank|WDFY3_ENST00000322366.6_Silent_p.P922P|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	922					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCGCTGCAGGGGCGGGTGCA	0.502																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2764-2766)ccC>ccT		WD repeat and FYVE domain containing 3							97.0	98.0	98.0					4																	85722859		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85722859G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2766C>T	4.37:g.85722859G>A						WDFY3_ENST00000295888.4_Silent_p.P922P	p.P922P			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	17	3173	-		Hepatocellular(203;0.114)	922					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.2766C>T	CCDS3609.1																																																																																				0.502	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		13	44	0	0	0	1	0	13	44				
PCDH15	65217	broad.mit.edu	37	10	56138547	56138547	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr10:56138547T>C	ENST00000320301.6	-	4	707	c.313A>G	c.(313-315)Aga>Gga	p.R105G	PCDH15_ENST00000395440.1_Missense_Mutation_p.R105G|PCDH15_ENST00000361849.3_Missense_Mutation_p.R105G|PCDH15_ENST00000395445.1_Missense_Mutation_p.R105G|PCDH15_ENST00000414778.1_Missense_Mutation_p.R110G|PCDH15_ENST00000395446.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395430.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395442.1_Missense_Mutation_p.R105G|PCDH15_ENST00000373955.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395438.1_Missense_Mutation_p.R105G|PCDH15_ENST00000373957.3_Missense_Mutation_p.R83G|PCDH15_ENST00000395432.2_Missense_Mutation_p.R105G|PCDH15_ENST00000373965.2_Missense_Mutation_p.R105G|PCDH15_ENST00000437009.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395433.1_Missense_Mutation_p.R83G|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	105	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTAACATCTCTATCCAGAACT	0.313										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(313-315)Aga>Gga		protocadherin-related 15							85.0	90.0	88.0					10																	56138547		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138547T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.313A>G	10.37:g.56138547T>C	ENSP00000322604:p.Arg105Gly	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Missense_Mutation_p.R110G|PCDH15_ENST00000395430.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395442.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395433.1_Missense_Mutation_p.R83G|PCDH15_ENST00000373955.1_Missense_Mutation_p.R105G|PCDH15_ENST00000361849.3_Missense_Mutation_p.R105G|PCDH15_ENST00000395438.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395440.1_Missense_Mutation_p.R105G|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R105G|PCDH15_ENST00000437009.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395446.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395432.2_Missense_Mutation_p.R105G|PCDH15_ENST00000320301.6_Missense_Mutation_p.R105G|PCDH15_ENST00000373957.3_Missense_Mutation_p.R83G	p.R105G	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			4	707	-		Melanoma(3;0.117)|Lung SC(717;0.238)	105			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.313A>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051093	0.75960	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70749	-0.17;-0.21;-0.39;-0.26;-0.02;0.27;0.22;-0.39;-0.5;-0.45;-0.19;-0.51;-0.51;-0.36;-0.19	5.5	4.34	0.51931	Cadherin (1);	.	.	.	.	T	0.76630	0.4014	L	0.36672	1.1	0.45118	D	0.998137	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.991;1.0;1.0;1.0;0.999;1.0;0.991;0.999;1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.992;0.999;0.999;0.999;0.997;0.999;0.992;0.997;0.998;0.999;0.965;0.998;0.999;0.997;0.999	T	0.77827	-0.2443	9	0.87932	D	0	.	12.2298	0.54482	0.0:0.0:0.1426:0.8574	.	83;105;105;110;105;105;105;105;105;105;105;110;105;83;105	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	G	105;110;105;105;105;105;105;105;105;105;83;83;105;105;110;105;105	ENSP00000363076:R105G;ENSP00000410304:R110G;ENSP00000378826:R105G;ENSP00000378832:R105G;ENSP00000378833:R105G;ENSP00000378829:R105G;ENSP00000378827:R105G;ENSP00000378820:R105G;ENSP00000354950:R105G;ENSP00000378821:R83G;ENSP00000363068:R83G;ENSP00000322604:R105G;ENSP00000378818:R105G;ENSP00000412628:R105G;ENSP00000363066:R105G	ENSP00000322604:R105G	R	-	1	2	PCDH15	55808553	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.990000	0.56965	0.903000	0.36546	0.523000	0.50628	AGA		0.313	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		10	46	0	0	0	1	0	10	46				
AHNAK	79026	broad.mit.edu	37	11	62294723	62294723	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:62294723G>A	ENST00000378024.4	-	5	7440	c.7166C>T	c.(7165-7167)cCa>cTa	p.P2389L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2389					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCGAGGTCTGGCATAGAGAT	0.478																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7165-7167)cCa>cTa		AHNAK nucleoprotein							85.0	90.0	88.0					11																	62294723		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294723G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7166C>T	11.37:g.62294723G>A	ENSP00000367263:p.Pro2389Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P2389L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7440	-		Melanoma(852;0.155)	2389					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7166C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	17.17	3.321165	0.60634	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05717	3.4	3.7	3.7	0.42460	.	.	.	.	.	T	0.39226	0.1070	H	0.97415	4	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.63888	-0.6535	9	0.72032	D	0.01	.	15.5042	0.75725	0.0:0.0:1.0:0.0	.	2389	Q09666	AHNK_HUMAN	L	478;2389	ENSP00000367263:P2389L	ENSP00000244934:P478L	P	-	2	0	AHNAK	62051299	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	6.718000	0.74713	1.812000	0.52913	0.473000	0.43528	CCA		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		55	58	0	0	0	1	0	55	58				
TNFSF13B	10673	broad.mit.edu	37	13	108955645	108955645	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr13:108955645A>T	ENST00000375887.4	+	4	704	c.526A>T	c.(526-528)Agt>Tgt	p.S176C	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.S157C|TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000542136.1_Intron|RNA5SP39_ENST00000411245.1_RNA	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	176					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	TAAAAGGGGAAGTGCCCTAGA	0.348																																						ENST00000375887.4																			0				large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(526-528)Agt>Tgt		tumor necrosis factor (ligand) superfamily, member 13b							56.0	60.0	59.0					13																	108955645		2202	4300	6502	SO:0001583	missense	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108955645A>T	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.526A>T	13.37:g.108955645A>T	ENSP00000365048:p.Ser176Cys					TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.S157C|TNFSF13B_ENST00000542136.1_Intron	p.S176C	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		4	704	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		176					E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	ENST00000375887.4	37	c.526A>T	CCDS9509.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.697214	0.48202	.	.	ENSG00000102524	ENST00000430559;ENST00000375887	D;D	0.94457	-3.43;-3.43	5.95	2.05	0.26809	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.799968	0.12127	N	0.497175	D	0.92097	0.7495	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.58620	0.983;0.971	P;B	0.45660	0.489;0.42	D	0.87114	0.2187	10	0.62326	D	0.03	-4.3771	7.9143	0.29808	0.6199:0.311:0.0691:0.0	.	157;176	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	C	157;176	ENSP00000389540:S157C;ENSP00000365048:S176C	ENSP00000365048:S176C	S	+	1	0	TNFSF13B	107753646	0.999000	0.42202	0.395000	0.26283	0.972000	0.66771	2.944000	0.49034	0.097000	0.17492	0.528000	0.53228	AGT		0.348	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3			24	25	0	0	0	1	0	24	25				
NFASC	23114	broad.mit.edu	37	1	204956668	204956668	+	Splice_Site	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:204956668T>C	ENST00000401399.1	+	21	2792	c.2593T>C	c.(2593-2595)Ttt>Ctt	p.F865L	NFASC_ENST00000338515.6_Splice_Site_p.F972L|NFASC_ENST00000338586.6_Splice_Site_p.F972L|NFASC_ENST00000539706.1_Splice_Site_p.F968L|NFASC_ENST00000367169.4_Splice_Site_p.F865L|NFASC_ENST00000360049.4_Splice_Site_p.F968L|NFASC_ENST00000513543.1_Splice_Site_p.F968L|NFASC_ENST00000404076.1_Splice_Site_p.F951L|NFASC_ENST00000339876.6_Splice_Site_p.F865L|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Splice_Site_p.F957L|NFASC_ENST00000367172.4_Splice_Site_p.F972L|NFASC_ENST00000404907.1_Splice_Site_p.F968L|NFASC_ENST00000367170.4_Splice_Site_p.F972L			O94856	NFASC_HUMAN	neurofascin	873	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATATGTGGCCTGTACGTTCTG	0.493																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.e24+1		neurofascin							183.0	156.0	165.0					1																	204956668		2203	4300	6503	SO:0001630	splice_region_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204956668T>C	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2593+1T>C	1.37:g.204956668T>C						NFASC_ENST00000339876.6_Splice_Site_p.F865_splice|NFASC_ENST00000404076.1_Splice_Site_p.F951_splice|NFASC_ENST00000338515.6_Splice_Site_p.F972_splice|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_Splice_Site_p.F968_splice|NFASC_ENST00000513543.1_Splice_Site_p.F968_splice|NFASC_ENST00000404907.1_Splice_Site_p.F968_splice|NFASC_ENST00000360049.4_Splice_Site_p.F968_splice|NFASC_ENST00000367171.4_Splice_Site_p.F957_splice|NFASC_ENST00000367170.4_Splice_Site_p.F972_splice|NFASC_ENST00000401399.1_Splice_Site_p.F865_splice|NFASC_ENST00000367169.4_Splice_Site_p.F865_splice|NFASC_ENST00000338586.6_Splice_Site_p.F972_splice	p.F972_splice			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		24	3242	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		972	F -> V (in Ref. 3; AK127424).		Fibronectin type-III 4.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Splice_Site	SNP	ENST00000401399.1	37	c.2914_splice	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.301773	0.23736	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.23	4.08	0.47627	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.164910	0.29321	U	0.012482	T	0.33089	0.0851	N	0.12182	0.205	0.22354	N	0.999179	B;B;B;B;B;B;B;B;B	0.33777	0.425;0.002;0.203;0.371;0.002;0.101;0.371;0.077;0.364	B;B;B;B;B;B;B;B;B	0.35727	0.166;0.006;0.149;0.193;0.005;0.039;0.157;0.101;0.209	T	0.16305	-1.0407	10	0.25751	T	0.34	.	9.9262	0.41494	0.1518:0.0:0.0:0.8481	.	972;983;968;972;972;865;957;865;968	O94856;O94856-11;O94856-8;O94856-7;F8W8X7;O94856-4;F8W791;O94856-9;O94856-3	NFASC_HUMAN;.;.;.;.;.;.;.;.	L	972;957;972;972;865;972;983;968;968;865;951;865;968;968;959	ENSP00000356140:F972L;ENSP00000356139:F957L;ENSP00000356138:F972L;ENSP00000342128:F972L;ENSP00000344786:F865L;ENSP00000343509:F972L;ENSP00000438614:F968L;ENSP00000353154:F968L;ENSP00000356137:F865L;ENSP00000385676:F951L;ENSP00000385637:F865L;ENSP00000384061:F968L;ENSP00000425908:F968L;ENSP00000415031:F959L	ENSP00000295776:F983L	F	+	1	0	NFASC	203223291	1.000000	0.71417	0.971000	0.41717	0.012000	0.07955	2.505000	0.45424	0.986000	0.38683	-0.468000	0.05107	TTT		0.493	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	Missense_Mutation	44	109	0	0	0	1	0	44	109				
EPRS	2058	broad.mit.edu	37	1	220179656	220179656	+	Splice_Site	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:220179656C>G	ENST00000366923.3	-	15	2012		c.e15-1			NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase						cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATCTGCATTTCTAGATATAAG	0.264																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.e15-1		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						62.0	62.0	62.0					1																	220179656		2201	4300	6501	SO:0001630	splice_region_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220179656C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1743-1G>C	1.37:g.220179656C>G						EPRS_ENST00000464052.1_Splice_Site		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	15	2012	-								A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Splice_Site	SNP	ENST00000366923.3	37		CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344690	0.24426	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPRS	218246279	1.000000	0.71417	0.992000	0.48379	0.063000	0.16089	7.544000	0.82117	2.873000	0.98535	0.563000	0.77884	.		0.264	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	Intron	20	42	0	0	0	1	0	20	42				
STEAP1	26872	broad.mit.edu	37	7	89790374	89790374	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:89790374A>G	ENST00000297205.2	+	3	540	c.340A>G	c.(340-342)Atc>Gtc	p.I114V	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	114					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AATCCTGGTCATCAACAAAGT	0.388																																						ENST00000297205.2																			0				kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14						c.(340-342)Atc>Gtc		six transmembrane epithelial antigen of the prostate 1							64.0	67.0	66.0					7																	89790374		2203	4297	6500	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89790374A>G	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.340A>G	7.37:g.89790374A>G	ENSP00000297205:p.Ile114Val					STEAP2-AS1_ENST00000478318.2_RNA	p.I114V	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN			3	540	+	all_hematologic(106;0.112)		114					A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.340A>G	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	A	3.653	-0.071156	0.07228	.	.	ENSG00000164647	ENST00000297205	T	0.05786	3.39	5.02	3.83	0.44106	.	0.154950	0.44285	N	0.000465	T	0.04998	0.0134	L	0.42686	1.345	0.30702	N	0.750236	B;B	0.12013	0.005;0.003	B;B	0.12156	0.007;0.004	T	0.36456	-0.9747	10	0.02654	T	1	-12.3863	8.368	0.32397	0.8456:0.0:0.1544:0.0	.	114;114	B4E221;Q9UHE8	.;STEA1_HUMAN	V	114	ENSP00000297205:I114V	ENSP00000297205:I114V	I	+	1	0	STEAP1	89628310	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.486000	0.45259	0.887000	0.36136	0.533000	0.62120	ATC		0.388	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		17	144	0	0	0	1	0	17	144				
TRAV21	28662	broad.mit.edu	37	14	22521230	22521230	+	RNA	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr14:22521230C>G	ENST00000390449.3	+	0	258									T cell receptor alpha variable 21																		CTTAATGCCTCGCTGGATAAA	0.488																																						ENST00000390449.3																			0																				53.0	52.0	52.0					14																	22521230		1936	4149	6085			28662							g.chr14:22521230C>G	AE000660		14q11.2	2012-02-07			ENSG00000211801	ENSG00000211801		"""T cell receptors / TRA locus"""	12118	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170648		14.37:g.22521230C>G														0	258	+									RNA	SNP	ENST00000390449.3	37																																																																																						0.488	TRAV21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409896.1	NG_001332		20	24	0	0	0	1	0	20	24				
ZNF280D	54816	broad.mit.edu	37	15	56923975	56923975	+	Silent	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr15:56923975T>C	ENST00000267807.7	-	22	2877	c.2661A>G	c.(2659-2661)gcA>gcG	p.A887A	ZNF280D_ENST00000559237.1_Silent_p.A874A|RP11-1129I3.1_ENST00000562300.1_RNA	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	887					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(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CATTATCTGATGCTAATCGCA	0.353																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(2620-2622)gcA>gcG		zinc finger protein 280D							127.0	124.0	125.0					15																	56923975		2192	4292	6484	SO:0001819	synonymous_variant	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56923975T>C	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2661A>G	15.37:g.56923975T>C						ZNF280D_ENST00000267807.7_Silent_p.A887A	p.A874A	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	21	3305	-			887					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	c.2622A>G	CCDS32245.1																																																																																				0.353	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		47	35	0	0	0	1	0	47	35				
AGO1	26523	broad.mit.edu	37	1	36359740	36359740	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:36359740C>T	ENST00000373204.4	+	6	965	c.752C>T	c.(751-753)tCt>tTt	p.S251F	AGO1_ENST00000373206.1_Missense_Mutation_p.S176F	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	251	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CTCACGGACTCTCAGCGCGTT	0.547																																						ENST00000373204.4																			0											c.(751-753)tCt>tTt		argonaute RISC catalytic component 1							62.0	59.0	60.0					1																	36359740		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36359740C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.752C>T	1.37:g.36359740C>T	ENSP00000362300:p.Ser251Phe					AGO1_ENST00000373206.1_Missense_Mutation_p.S176F	p.S251F	NM_012199.2	NP_036331.1					6	965	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.752C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227200	0.58668	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.14640	2.49;2.49	5.26	5.26	0.73747	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	M	0.73962	2.25	0.80722	D	1	B	0.18610	0.029	B	0.28916	0.096	T	0.03957	-1.0989	10	0.54805	T	0.06	7.258	19.0554	0.93062	0.0:1.0:0.0:0.0	.	251	Q9UL18	AGO1_HUMAN	F	176;251	ENSP00000362302:S176F;ENSP00000362300:S251F	ENSP00000362300:S251F	S	+	2	0	EIF2C1	36132327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.731000	0.93534	0.591000	0.81541	TCT		0.547	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			18	48	0	0	0	1	0	18	48				
SLC2A10	81031	broad.mit.edu	37	20	45358032	45358032	+	Silent	SNP	G	G	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr20:45358032G>C	ENST00000359271.2	+	4	1702	c.1452G>C	c.(1450-1452)ctG>ctC	p.L484L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	484					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TCTACGGACTGACCGCTGTCC	0.582																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1450-1452)ctG>ctC		solute carrier family 2 (facilitated glucose transporter), member 10							70.0	67.0	68.0					20																	45358032		2203	4300	6503	SO:0001819	synonymous_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45358032G>C	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1452G>C	20.37:g.45358032G>C							p.L484L	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			4	1702	+		Myeloproliferative disorder(115;0.0122)	484					A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	c.1452G>C	CCDS13402.1																																																																																				0.582	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			25	61	0	0	0	1	0	25	61				
MDN1	23195	broad.mit.edu	37	6	90437619	90437619	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:90437619T>A	ENST00000369393.3	-	37	5520	c.5405A>T	c.(5404-5406)gAg>gTg	p.E1802V	MDN1_ENST00000428876.1_Missense_Mutation_p.E1802V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1802					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAGGCAAACTCTCCTCCCTT	0.507																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5404-5406)gAg>gTg		MDN1, midasin homolog (yeast)							158.0	124.0	136.0					6																	90437619		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90437619T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5405A>T	6.37:g.90437619T>A	ENSP00000358400:p.Glu1802Val					MDN1_ENST00000428876.1_Missense_Mutation_p.E1802V	p.E1802V			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	37	5520	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1802					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5405A>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084504	0.55861	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.35421	1.31;1.31	5.23	5.23	0.72850	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.104653	0.64402	D	0.000005	T	0.37100	0.0991	L	0.58101	1.795	0.53688	D	0.999975	P	0.36048	0.534	P	0.48089	0.566	T	0.29852	-0.9998	10	0.52906	T	0.07	.	14.7967	0.69884	0.0:0.0:0.0:1.0	.	1802	Q9NU22	MDN1_HUMAN	V	1802	ENSP00000358400:E1802V;ENSP00000413970:E1802V	ENSP00000358400:E1802V	E	-	2	0	MDN1	90494340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.713000	0.84693	1.972000	0.57404	0.460000	0.39030	GAG		0.507	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			37	45	0	0	0	1	0	37	45				
MUC5B	727897	broad.mit.edu	37	11	1264665	1264665	+	Silent	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:1264665C>A	ENST00000529681.1	+	31	6613	c.6555C>A	c.(6553-6555)acC>acA	p.T2185T	MUC5B_ENST00000447027.1_Silent_p.T2188T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2185	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TAGGGACCACCCACACACCCC	0.672																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6562-6564)acC>acA		mucin 5B, oligomeric mucus/gel-forming																																				SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264665C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6555C>A	11.37:g.1264665C>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2185T	p.T2188T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6622	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2185			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.6564C>A	CCDS44515.2																																																																																				0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	20	1	0	0.00909568	1	0.00921279	4	20				
FNDC1	84624	broad.mit.edu	37	6	159655440	159655440	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:159655440G>A	ENST00000297267.9	+	11	4096	c.3896G>A	c.(3895-3897)cGc>cAc	p.R1299H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R1236H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1299					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTGTCCTTGCGCCAGAGGATG	0.602																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3895-3897)cGc>cAc		fibronectin type III domain containing 1							27.0	29.0	28.0					6																	159655440		2063	4150	6213	SO:0001583	missense	84624					extracellular region		g.chr6:159655440G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3896G>A	6.37:g.159655440G>A	ENSP00000297267:p.Arg1299His					FNDC1_ENST00000340366.6_Missense_Mutation_p.R1236H	p.R1299H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	4096	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1299					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3896G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106720	0.56291	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.11604	2.76;3.53	5.56	5.56	0.83823	.	0.341197	0.28140	N	0.016442	T	0.14743	0.0356	L	0.34521	1.04	0.39809	D	0.972678	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.974	T	0.00972	-1.1495	10	0.87932	D	0	-19.8688	13.4481	0.61153	0.0758:0.0:0.9242:0.0	.	1236;1299	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	1299;1236	ENSP00000297267:R1299H;ENSP00000342460:R1236H	ENSP00000297267:R1299H	R	+	2	0	FNDC1	159575430	1.000000	0.71417	0.993000	0.49108	0.504000	0.33889	3.446000	0.52928	2.612000	0.88384	0.650000	0.86243	CGC		0.602	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		11	33	0	0	0	1	0	11	33				
ATRN	8455	broad.mit.edu	37	20	3557521	3557521	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr20:3557521T>C	ENST00000262919.5	+	14	2298	c.2230T>C	c.(2230-2232)Tat>Cat	p.Y744H	ATRN_ENST00000446916.2_Missense_Mutation_p.Y744H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	744	PSI 1.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CATTTTTAGGTATGAGAATTG	0.458																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2230-2232)Tat>Cat		attractin							107.0	104.0	105.0					20																	3557521		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3557521T>C	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2230T>C	20.37:g.3557521T>C	ENSP00000262919:p.Tyr744His					ATRN_ENST00000446916.2_Missense_Mutation_p.Y744H	p.Y744H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			14	2298	+			744			PSI 1.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.2230T>C	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963187	0.53507	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.17370	3.38;2.28	5.66	5.66	0.87406	.	0.179543	0.51477	D	0.000099	T	0.35248	0.0925	L	0.56769	1.78	0.53005	D	0.999964	B;D	0.76494	0.045;0.999	B;D	0.63877	0.125;0.919	T	0.02431	-1.1160	10	0.29301	T	0.29	-13.4141	15.551	0.76152	0.0:0.0:0.0:1.0	.	744;744	O75882;O75882-2	ATRN_HUMAN;.	H	744;744;670	ENSP00000262919:Y744H;ENSP00000416587:Y744H	ENSP00000262919:Y744H	Y	+	1	0	ATRN	3505521	1.000000	0.71417	0.886000	0.34754	0.880000	0.50808	7.658000	0.83755	2.165000	0.68154	0.459000	0.35465	TAT		0.458	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		27	64	0	0	0	1	0	27	64				
P4HA1	5033	broad.mit.edu	37	10	74813153	74813153	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr10:74813153T>C	ENST00000307116.2	-	6	775	c.659A>G	c.(658-660)gAc>gGc	p.D220G	P4HA1_ENST00000440381.1_Missense_Mutation_p.D220G|P4HA1_ENST00000394890.2_Missense_Mutation_p.D220G|P4HA1_ENST00000412021.2_Missense_Mutation_p.D220G|P4HA1_ENST00000263556.3_Missense_Mutation_p.D220G|P4HA1_ENST00000373008.2_Missense_Mutation_p.D220G			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	220					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTATCCAGGTCTCCCTGCTG	0.393																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(658-660)gAc>gGc		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						128.0	126.0	126.0					10																	74813153		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74813153T>C		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.659A>G	10.37:g.74813153T>C	ENSP00000307318:p.Asp220Gly					P4HA1_ENST00000263556.3_Missense_Mutation_p.D220G|P4HA1_ENST00000440381.1_Missense_Mutation_p.D220G|P4HA1_ENST00000373008.2_Missense_Mutation_p.D220G|P4HA1_ENST00000307116.2_Missense_Mutation_p.D220G|P4HA1_ENST00000394890.2_Missense_Mutation_p.D220G	p.D220G	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			7	992	-	Prostate(51;0.0198)		220					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.659A>G		.	.	.	.	.	.	.	.	.	.	T	16.92	3.256240	0.59321	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.46819	0.87;0.87;0.87;0.87;0.87;0.86	5.83	4.68	0.58851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.257041	0.43416	D	0.000576	T	0.53302	0.1788	M	0.74467	2.265	0.50467	D	0.999874	B;B;B	0.26512	0.036;0.151;0.151	B;B;B	0.34489	0.04;0.119;0.184	T	0.55127	-0.8189	10	0.72032	D	0.01	-13.2713	13.1291	0.59371	0.0:0.0:0.1338:0.8662	.	220;220;220	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	G	220	ENSP00000307318:D220G;ENSP00000362099:D220G;ENSP00000411688:D220G;ENSP00000378353:D220G;ENSP00000263556:D220G;ENSP00000414464:D220G	ENSP00000263556:D220G	D	-	2	0	P4HA1	74483159	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.908000	0.69916	1.014000	0.39417	0.533000	0.62120	GAC		0.393	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		15	62	0	0	0	1	0	15	62				
FANCB	2187	broad.mit.edu	37	X	14882892	14882892	+	Silent	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chrX:14882892G>A	ENST00000324138.3	-	2	894	c.741C>T	c.(739-741)atC>atT	p.I247I	FANCB_ENST00000398334.1_Silent_p.I247I	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	247					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GGTTTTTGATGATCTCAGTTG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(739-741)atC>atT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							88.0	84.0	85.0					X																	14882892		2203	4299	6502	SO:0001819	synonymous_variant	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14882892G>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.741C>T	X.37:g.14882892G>A						FANCB_ENST00000324138.3_Silent_p.I247I	p.I247I	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			3	1008	-	Hepatocellular(33;0.183)		247					B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	c.741C>T	CCDS14161.1																																																																																				0.353	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		17	16	0	0	0	1	0	17	16				
CATSPERD	257062	broad.mit.edu	37	19	5719905	5719905	+	5'Flank	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:5719905G>A	ENST00000381624.3	+	0	0				LONP1_ENST00000585374.1_Intron|LONP1_ENST00000593119.1_Intron|LONP1_ENST00000540670.2_Intron|CATSPERD_ENST00000381614.2_5'Flank|LONP1_ENST00000590729.1_5'Flank|LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000360614.3_Missense_Mutation_p.S80L	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CTCGCCCCCCGAGAATGCGCC	0.761																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(238-240)tCg>tTg		lon peptidase 1, mitochondrial							3.0	6.0	5.0					19																	5719905		1821	3705	5526	SO:0001631	upstream_gene_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5719905G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036		19.37:g.5719905G>A	Exception_encountered					LONP1_ENST00000540670.2_Intron|LONP1_ENST00000585374.1_Intron|LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000593119.1_Intron	p.S80L	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			1	396	-			80					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.239C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047575	0.36085	.	.	ENSG00000196365	ENST00000360614	T	0.18502	2.21	4.2	4.2	0.49525	.	0.160530	0.42294	D	0.000737	T	0.08802	0.0218	N	0.24115	0.695	0.80722	D	1	P;P	0.37997	0.614;0.614	B;B	0.22152	0.038;0.038	T	0.15492	-1.0435	10	0.46703	T	0.11	-2.7961	9.3579	0.38177	0.0:0.0:0.7868:0.2132	.	80;80	E5KMH8;P36776	.;LONM_HUMAN	L	80	ENSP00000353826:S80L	ENSP00000353826:S80L	S	-	2	0	LONP1	5670905	0.999000	0.42202	0.099000	0.21106	0.041000	0.13682	4.286000	0.58995	2.163000	0.67991	0.655000	0.94253	TCG		0.761	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		3	11	0	0	0	1	0	3	11				
C1QL2	165257	broad.mit.edu	37	2	119915201	119915201	+	Silent	SNP	G	G	A	rs371906170		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:119915201G>A	ENST00000272520.3	-	1	1264	c.645C>T	c.(643-645)gaC>gaT	p.D215D		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	215	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TGCTGGTGCCGTCGCCGCCGC	0.642										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(643-645)gaC>gaT		complement component 1, q subcomponent-like 2		G		0,4402		0,0,2201	51.0	57.0	55.0		645	1.9	1.0	2		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1QL2	NM_182528.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		215/288	119915201	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	165257					collagen		g.chr2:119915201G>A	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.645C>T	2.37:g.119915201G>A		HNSCC(49;0.14)					p.D215D	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			1	1264	-			215			C1q.			Silent	SNP	ENST00000272520.3	37	c.645C>T	CCDS42737.1																																																																																				0.642	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		25	47	0	0	0	1	0	25	47				
ZNF257	113835	broad.mit.edu	37	19	22271571	22271571	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:22271571G>C	ENST00000594947.1	+	4	1163	c.1019G>C	c.(1018-1020)gGa>gCa	p.G340A		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G340A(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTCATACTGGAGAGAAACCC	0.403																																						ENST00000594947.1																			1	Substitution - Missense(1)	p.G340A(1)	lung(1)	haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(1018-1020)gGa>gCa		zinc finger protein 257							45.0	49.0	47.0					19																	22271571		2169	4276	6445	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271571G>C	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1019G>C	19.37:g.22271571G>C	ENSP00000470209:p.Gly340Ala						p.G340A	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	1163	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	340					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1019G>C	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298124	0.23650	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.272	0.12919	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37544	0.1007	L	0.45470	1.425	0.31483	N	0.666919	B	0.31227	0.314	B	0.32090	0.14	T	0.39461	-0.9613	8	0.72032	D	0.01	.	6.4706	0.22005	0.1883:0.0:0.8117:0.0	.	340	Q9Y2Q1	ZN257_HUMAN	A	340;312	.	ENSP00000380312:G312A	G	+	2	0	ZNF257	22063411	0.974000	0.33945	0.043000	0.18650	0.040000	0.13550	0.754000	0.26390	-0.400000	0.07656	-0.657000	0.03884	GGA		0.403	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			16	70	0	0	0	1	0	16	70				
ZDBF2	57683	broad.mit.edu	37	2	207176200	207176200	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:207176200G>T	ENST00000374423.3	+	5	7334	c.6948G>T	c.(6946-6948)caG>caT	p.Q2316H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2316							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATGGCCGACAGAAAGGTCCTT	0.493																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(6946-6948)caG>caT		zinc finger, DBF-type containing 2							42.0	43.0	43.0					2																	207176200		1938	4153	6091	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207176200G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6948G>T	2.37:g.207176200G>T	ENSP00000363545:p.Gln2316His						p.Q2316H	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	7334	+			2316					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.6948G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664043	0.29604	.	.	ENSG00000204186	ENST00000374423	T	0.47869	0.83	4.99	-1.27	0.09347	.	.	.	.	.	T	0.25419	0.0618	N	0.08118	0	0.09310	N	1	B	0.25955	0.138	B	0.21917	0.037	T	0.20638	-1.0269	9	0.62326	D	0.03	.	9.249	0.37543	0.1455:0.0:0.7066:0.1479	.	2316	Q9HCK1	ZDBF2_HUMAN	H	2316	ENSP00000363545:Q2316H	ENSP00000363545:Q2316H	Q	+	3	2	ZDBF2	206884445	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.233000	0.17911	-0.145000	0.11294	0.603000	0.83216	CAG		0.493	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		8	12	1	0	2.62144e-13	1	2.91821e-13	8	12				
LRRC10	376132	broad.mit.edu	37	12	70004425	70004425	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr12:70004425T>C	ENST00000361484.3	-	1	517	c.194A>G	c.(193-195)aAt>aGt	p.N65S		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	65					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGGCAGGCTATTGAGGTGGTT	0.572																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(193-195)aAt>aGt		leucine rich repeat containing 10							55.0	52.0	53.0					12																	70004425		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004425T>C	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.194A>G	12.37:g.70004425T>C	ENSP00000355166:p.Asn65Ser						p.N65S	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	517	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		65					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.194A>G	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	T	2.552	-0.303832	0.05495	.	.	ENSG00000198812	ENST00000361484	T	0.07800	3.16	5.62	-3.64	0.04515	.	0.574099	0.21703	N	0.070389	T	0.01765	0.0056	N	0.00894	-1.105	0.22737	N	0.998796	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	10	0.08837	T	0.75	.	7.3883	0.26895	0.0:0.2988:0.2762:0.425	.	65	Q5BKY1	LRC10_HUMAN	S	65	ENSP00000355166:N65S	ENSP00000355166:N65S	N	-	2	0	LRRC10	68290692	0.823000	0.29233	0.793000	0.32043	0.912000	0.54170	0.013000	0.13310	-0.175000	0.10725	0.454000	0.30748	AAT		0.572	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		8	41	0	0	0	1	0	8	41				
LRP1B	53353	broad.mit.edu	37	2	141110618	141110618	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:141110618C>G	ENST00000389484.3	-	76	12525	c.11554G>C	c.(11554-11556)Ggc>Cgc	p.G3852R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3852	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GAACATGTGCCAAACACCAAA	0.363										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.(11554-11556)Ggc>Cgc		low density lipoprotein receptor-related protein 1B							135.0	133.0	134.0					2																	141110618		2203	4298	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141110618C>G	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.11554G>C	2.37:g.141110618C>G	ENSP00000374135:p.Gly3852Arg	TSP Lung(27;0.18)					p.G3852R	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)	76	12525	-		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)	3852			EGF-like 9.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11554G>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.934643|4.934643	0.92458|0.92458	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.91295|.	-2.82|.	5.49|5.49	5.49|5.49	0.81192|0.81192	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.076026|.	0.53938|.	D|.	0.000050|.	T|T	0.77605|0.77605	0.4155|0.4155	M|M	0.75615|0.75615	2.305|2.305	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.69078|.	0.997|.	D|.	0.70016|.	0.967|.	T|T	0.76389|0.76389	-0.2977|-0.2977	10|5	0.59425|.	D|.	0.04|.	.|.	19.7197|19.7197	0.96137|0.96137	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3852|.	Q9NZR2|.	LRP1B_HUMAN|.	R|F	3852;3790|83	ENSP00000374135:G3852R|.	ENSP00000374135:G3852R|.	G|L	-|-	1|3	0|2	LRP1B|LRP1B	140827088|140827088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.110000|7.110000	0.77069|0.77069	2.725000|2.725000	0.93324|0.93324	0.591000|0.591000	0.81541|0.81541	GGC|TTG		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		34	71	0	0	0	1	0	34	71				
SLC27A4	10999	broad.mit.edu	37	9	131122696	131122696	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr9:131122696G>A	ENST00000300456.4	+	13	1975	c.1858G>A	c.(1858-1860)Gcc>Acc	p.A620T	SLC27A4_ENST00000372870.1_Missense_Mutation_p.A214T	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	620					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CTATCTAGATGCCCAGAAGGG	0.602																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(1858-1860)Gcc>Acc		solute carrier family 27 (fatty acid transporter), member 4							70.0	76.0	74.0					9																	131122696		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131122696G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1858G>A	9.37:g.131122696G>A	ENSP00000300456:p.Ala620Thr					SLC27A4_ENST00000372870.1_Missense_Mutation_p.A214T	p.A620T	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			13	1975	+			620					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.1858G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	4.364	0.067140	0.08388	.	.	ENSG00000167114	ENST00000372870;ENST00000300456	D;T	0.82893	-1.66;0.74	5.04	-5.84	0.02318	.	0.852944	0.10874	N	0.624547	T	0.65739	0.2720	L	0.35487	1.065	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.13407	0.009;0.001	T	0.52586	-0.8556	10	0.12766	T	0.61	-0.8866	6.4219	0.21748	0.5009:0.0:0.1261:0.373	.	214;620	Q96G53;Q6P1M0	.;S27A4_HUMAN	T	214;620	ENSP00000361961:A214T;ENSP00000300456:A620T	ENSP00000300456:A620T	A	+	1	0	SLC27A4	130162517	0.000000	0.05858	0.003000	0.11579	0.103000	0.19146	-0.176000	0.09811	-1.044000	0.03254	-0.345000	0.07892	GCC		0.602	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			32	80	0	0	0	1	0	32	80				
RP5-1052I5.2	0	broad.mit.edu	37	1	87599295	87599295	+	Splice_Site	SNP	A	A	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:87599295A>G	ENST00000370548.2	+	7	839		c.e7-1		RP5-1052I5.1_ENST00000484933.2_lincRNA|HS2ST1_ENST00000356813.4_Splice_Site																							CTTCCTTTCCAGCACCAGATA	0.507																																						ENST00000356813.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9						c.e7-1		heparan sulfate 2-O-sulfotransferase 1							38.0	34.0	35.0					1																	87599295		876	1991	2867	SO:0001630	splice_region_variant	9653					Golgi membrane|integral to membrane		g.chr1:87599295A>G																												ENST00000370548.2:c.767-1A>G	1.37:g.87599295A>G						RP5-1052I5.1_ENST00000484933.2_lincRNA|RP5-1052I5.2_ENST00000370548.2_Splice_Site				Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	7	766	+		Lung NSC(277;0.153)							Splice_Site	SNP	ENST00000370548.2	37			.	.	.	.	.	.	.	.	.	.	A	5.358	0.251411	0.10130	.	.	ENSG00000153936	ENST00000370548;ENST00000356813	.	.	.	2.14	-0.653	0.11447	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.999947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8809	0.13679	0.4227:0.0:0.5773:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HS2ST1	87371883	0.002000	0.14202	0.000000	0.03702	0.195000	0.23768	0.406000	0.21032	-0.140000	0.11394	0.383000	0.25322	.		0.507	RP5-1052I5.2-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000457517.1		Intron	5	15	0	0	0	1	0	5	15				
PREX2	80243	broad.mit.edu	37	8	69027997	69027997	+	Silent	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr8:69027997T>C	ENST00000288368.4	+	26	3433	c.3156T>C	c.(3154-3156)tcT>tcC	p.S1052S		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1052					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCCTTCTGTCTTCAATAACAT	0.333																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(3154-3156)tcT>tcC		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							84.0	80.0	81.0					8																	69027997		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69027997T>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3156T>C	8.37:g.69027997T>C							p.S1052S	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			26	3433	+			1052					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.3156T>C	CCDS6201.1																																																																																				0.333	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		10	30	0	0	0	1	0	10	30				
ZNF385B	151126	broad.mit.edu	37	2	180634263	180634263	+	Missense_Mutation	SNP	C	C	A	rs544716600	byFrequency	TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:180634263C>A	ENST00000410066.1	-	3	823	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	74	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTGGCCTGGGCGGGTGGTGGG	0.622																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(220-222)Gcc>Tcc		zinc finger protein 385B							43.0	42.0	42.0					2																	180634263		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180634263C>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.220G>T	2.37:g.180634263C>A	ENSP00000386845:p.Ala74Ser						p.A74S	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		3	823	-			74					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.220G>T	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120656	0.37436	.	.	ENSG00000144331	ENST00000410066;ENST00000451732	T	0.32753	1.44	6.06	-0.64	0.11493	.	0.597033	0.15483	N	0.260013	T	0.12092	0.0294	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23976	-1.0173	10	0.09084	T	0.74	0.0176	1.2085	0.01899	0.2291:0.3577:0.2228:0.1904	.	74	Q569K4	Z385B_HUMAN	S	74	ENSP00000386845:A74S	ENSP00000386845:A74S	A	-	1	0	ZNF385B	180342508	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.139000	0.10358	0.141000	0.18875	-0.812000	0.03155	GCC		0.622	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		19	69	1	0	1.33834e-09	1	1.45552e-09	19	69				
SRRT	51593	broad.mit.edu	37	7	100478967	100478967	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:100478967C>T	ENST00000347433.4	+	3	342	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	SRRT_ENST00000457580.2_Missense_Mutation_p.R62W|SRRT_ENST00000388793.4_Missense_Mutation_p.R62W|SRRT_ENST00000432932.1_Missense_Mutation_p.R62W			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	62	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGACCGGAATCGGCGAGAGCG	0.587																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(184-186)Cgg>Tgg		serrate RNA effector molecule homolog (Arabidopsis)							79.0	71.0	74.0					7																	100478967		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100478967C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.184C>T	7.37:g.100478967C>T	ENSP00000314491:p.Arg62Trp					SRRT_ENST00000457580.2_Missense_Mutation_p.R62W|SRRT_ENST00000432932.1_Missense_Mutation_p.R62W|SRRT_ENST00000347433.4_Missense_Mutation_p.R62W	p.R62W	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			3	404	+			62			Arg-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.184C>T	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644581	0.67358	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000431645	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.66287	0.2774	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.56343	0.796;0.796;0.796;0.63	T	0.69636	-0.5092	9	0.66056	D	0.02	.	15.9856	0.80151	0.0:1.0:0.0:0.0	.	62;62;62;62	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	W	62;62;62;62;69	.	ENSP00000314491:R62W	R	+	1	2	SRRT	100316903	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.269000	0.51592	2.360000	0.80028	0.650000	0.86243	CGG		0.587	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		53	133	0	0	0	1	0	53	133				
LINC00969	440993	broad.mit.edu	37	3	195400841	195400841	+	lincRNA	SNP	C	C	A	rs7615369		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:195400841C>A	ENST00000445430.1	+	0	1437									long intergenic non-protein coding RNA 969																		CTGAGCATCGCAGAGTCGTGC	0.552																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400841C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400841C>A														0	1437	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	28	1	0	6.40141e-05	1	6.65521e-05	3	28				
FAM135B	51059	broad.mit.edu	37	8	139165072	139165072	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr8:139165072G>A	ENST00000395297.1	-	13	1816	c.1646C>T	c.(1645-1647)cCa>cTa	p.P549L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	549										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTCAGCACTGGGGCCTGTCC	0.507										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1645-1647)cCa>cTa		family with sequence similarity 135, member B							82.0	81.0	82.0					8																	139165072		1951	4149	6100	SO:0001583	missense	51059							g.chr8:139165072G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1646C>T	8.37:g.139165072G>A	ENSP00000378710:p.Pro549Leu	HNSCC(54;0.14)					p.P549L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1816	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		549					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1646C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283099	0.40394	.	.	ENSG00000147724	ENST00000395297	T	0.15718	2.4	5.45	5.45	0.79879	.	0.643920	0.15665	N	0.250669	T	0.24198	0.0586	L	0.38531	1.155	0.21861	N	0.999502	D;P;P	0.55605	0.972;0.775;0.483	P;B;B	0.52159	0.691;0.436;0.084	T	0.06232	-1.0838	10	0.54805	T	0.06	-5.4533	13.9724	0.64250	0.0751:0.0:0.9249:0.0	.	549;549;549	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	L	549	ENSP00000378710:P549L	ENSP00000276737:P549L	P	-	2	0	FAM135B	139234254	0.001000	0.12720	0.096000	0.21009	0.992000	0.81027	1.036000	0.30228	2.725000	0.93324	0.655000	0.94253	CCA		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		44	92	0	0	0	1	0	44	92				
PRKCG	5582	broad.mit.edu	37	19	54407937	54407937	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:54407937G>A	ENST00000263431.3	+	16	1987	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.E569K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	569	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGCCATCATGGAACAAACTGT	0.592																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(1705-1707)Gaa>Aaa		protein kinase C, gamma							126.0	89.0	102.0					19																	54407937		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54407937G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1705G>A	19.37:g.54407937G>A	ENSP00000263431:p.Glu569Lys					PRKCG_ENST00000540413.1_Missense_Mutation_p.E569K|PRKCG_ENST00000542049.1_Intron	p.E569K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	16	1987	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		569			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1705G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097994	0.94197	.	.	ENSG00000126583	ENST00000540413;ENST00000263431	T;T	0.67345	-0.26;-0.26	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.56688	0.2002	N	0.03948	-0.315	0.80722	D	1	P;P	0.51653	0.947;0.947	P;P	0.53006	0.619;0.715	T	0.67921	-0.5545	9	0.59425	D	0.04	.	16.3183	0.82936	0.0:0.0:1.0:0.0	.	569;569	F5H5C4;P05129	.;KPCG_HUMAN	K	569	ENSP00000443493:E569K;ENSP00000263431:E569K	ENSP00000263431:E569K	E	+	1	0	PRKCG	59099749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.586000	0.82596	2.526000	0.85167	0.491000	0.48974	GAA		0.592	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		13	40	0	0	0	1	0	13	40				
ARHGAP11A	9824	broad.mit.edu	37	15	32915726	32915726	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr15:32915726C>A	ENST00000361627.3	+	3	956	c.234C>A	c.(232-234)gaC>gaA	p.D78E	ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000543522.1_5'UTR	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	78	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D78E(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CTTTAGAAGACCATATTCATA	0.373																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			2	Substitution - Missense(2)	p.D78E(2)	lung(1)|endometrium(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(232-234)gaC>gaA		Rho GTPase activating protein 11A							148.0	143.0	144.0					15																	32915726		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32915726C>A	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.234C>A	15.37:g.32915726C>A	ENSP00000355090:p.Asp78Glu					ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.D78E	p.D78E	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	3	956	+		all_lung(180;1.3e-11)	78			Rho-GAP.		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.234C>A	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	1.662	-0.511152	0.04231	.	.	ENSG00000198826	ENST00000361627	T	0.17213	2.29	4.76	-1.96	0.07525	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.411168	0.20407	N	0.092924	T	0.04092	0.0114	N	0.02379	-0.575	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47699	-0.9097	10	0.02654	T	1	.	6.1194	0.20144	0.3949:0.2143:0.3908:0.0	.	78	Q6P4F7	RHGBA_HUMAN	E	78	ENSP00000355090:D78E	ENSP00000355090:D78E	D	+	3	2	ARHGAP11A	30703018	0.766000	0.28496	0.835000	0.33067	0.834000	0.47266	-0.139000	0.10358	-1.045000	0.03250	-1.217000	0.01609	GAC		0.373	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		4	58	1	0	0.00024832	1	0.000255911	4	58				
PLPPR2	64748	broad.mit.edu	37	19	11470612	11470612	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:11470612G>A	ENST00000251473.5	+	5	747	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R99Q	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CCCCCAGTGCGGAGGCTGGTC	0.632																																						ENST00000251473.5																			0											c.(370-372)cGg>cAg									33.0	34.0	34.0					19																	11470612		2203	4300	6503	SO:0001583	missense	64748							g.chr19:11470612G>A																												ENST00000251473.5:c.371G>A	19.37:g.11470612G>A	ENSP00000251473:p.Arg124Gln					DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R99Q	p.R124Q	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					5	747	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.371G>A	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	g	16.91	3.253173	0.59212	.	.	ENSG00000105520	ENST00000251473	T	0.51574	0.7	5.54	3.41	0.39046	.	0.058564	0.64402	D	0.000003	T	0.64918	0.2642	M	0.84948	2.725	0.36099	D	0.843982	D;D	0.67145	0.992;0.996	P;D	0.63033	0.889;0.91	T	0.70619	-0.4822	10	0.30078	T	0.28	-8.5235	9.9619	0.41701	0.073:0.0:0.7885:0.1385	.	99;124	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	Q	124	ENSP00000251473:R124Q	ENSP00000251473:R124Q	R	+	2	0	AC024575.1	11331612	1.000000	0.71417	0.975000	0.42487	0.489000	0.33432	8.417000	0.90247	0.731000	0.32448	-0.397000	0.06425	CGG		0.632	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			9	26	0	0	0	1	0	9	26				
PIWIL3	440822	broad.mit.edu	37	22	25152630	25152630	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr22:25152630C>T	ENST00000332271.5	-	5	814	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R24Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R24Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	133					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGATATCACTCGGAAGTGGTT	0.418																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(397-399)cGa>cAa		piwi-like RNA-mediated gene silencing 3							74.0	71.0	72.0					22																	25152630		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25152630C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.398G>A	22.37:g.25152630C>T	ENSP00000330031:p.Arg133Gln					PIWIL3_ENST00000533313.1_Missense_Mutation_p.R24Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R24Q	p.R133Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			5	814	-			133						Missense_Mutation	SNP	ENST00000332271.5	37	c.398G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.471202	0.26423	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.10860	2.83;2.83;2.83	2.51	1.49	0.22878	Argonaute/Dicer protein, PAZ (1);	0.171896	0.39475	U	0.001355	T	0.06600	0.0169	L	0.42529	1.33	0.21020	N	0.99981	P;P;P	0.46859	0.885;0.627;0.796	B;B;B	0.37508	0.252;0.053;0.126	T	0.32268	-0.9913	10	0.22109	T	0.4	-4.2559	4.4862	0.11790	0.0:0.6849:0.0:0.3151	.	24;133;133	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Q	133;24;24	ENSP00000330031:R133Q;ENSP00000431843:R24Q;ENSP00000435718:R24Q	ENSP00000330031:R133Q	R	-	2	0	PIWIL3	23482630	0.013000	0.17824	0.211000	0.23655	0.026000	0.11368	-0.046000	0.11983	0.632000	0.30432	0.455000	0.32223	CGA		0.418	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		8	37	0	0	0	1	0	8	37				
KLKB1	3818	broad.mit.edu	37	4	187159417	187159417	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr4:187159417T>C	ENST00000264690.6	+	6	683	c.496T>C	c.(496-498)Tgc>Cgc	p.C166R	KLKB1_ENST00000513864.1_Missense_Mutation_p.C166R	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	166	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAGGAACAATTGCCTATTAAA	0.453																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(496-498)Tgc>Cgc		kallikrein B, plasma (Fletcher factor) 1							99.0	93.0	95.0					4																	187159417		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187159417T>C	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.496T>C	4.37:g.187159417T>C	ENSP00000264690:p.Cys166Arg					KLKB1_ENST00000513864.1_Missense_Mutation_p.C166R	p.C166R	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	6	683	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	166			Apple 2.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.496T>C	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.367106	0.61513	.	.	ENSG00000164344	ENST00000264690;ENST00000446598;ENST00000513864;ENST00000418715	D;D;D	0.99904	-7.69;-7.69;-7.69	5.42	5.42	0.78866	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.000000	0.85682	D	0.000000	D	0.99902	0.9953	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96097	0.9066	10	0.87932	D	0	.	13.8396	0.63430	0.0:0.0:0.0:1.0	.	128;166	E7EQA8;P03952	.;KLKB1_HUMAN	R	166;128;166;128	ENSP00000264690:C166R;ENSP00000415563:C128R;ENSP00000424469:C166R	ENSP00000264690:C166R	C	+	1	0	KLKB1	187396411	0.998000	0.40836	0.263000	0.24496	0.014000	0.08584	4.557000	0.60782	2.275000	0.75901	0.528000	0.53228	TGC		0.453	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		6	42	0	0	0	1	0	6	42				
CCL4	6351	broad.mit.edu	37	17	34431941	34431941	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr17:34431941G>A	ENST00000250151.4	+	2	413	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	CCL4_ENST00000394495.1_Intron	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	33					cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|establishment or maintenance of cell polarity (GO:0007163)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of natural killer cell chemotaxis (GO:2000503)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemokine activity (GO:0008009)|cytokine activity (GO:0005125)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCTCCCACCGCCTGCTGCTT	0.502																																					Colon(139;824 1752 21188 21615 24765)	ENST00000250151.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(97-99)Gcc>Acc		chemokine (C-C motif) ligand 4							41.0	34.0	36.0					17																	34431941		2203	4279	6482	SO:0001583	missense	6351				cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity	g.chr17:34431941G>A	M23502	CCDS11308.1	17q21-q23	2014-05-06	2002-08-22	2002-08-23	ENSG00000129277	ENSG00000275302		"""Chemokine ligands"", ""Endogenous ligands"""	10630	protein-coding gene	gene with protein product		182284	"""small inducible cytokine A4 (homologous to mouse Mip-1b)"""	LAG1, SCYA4		1972563	Standard	NM_002984		Approved	MIP-1-beta, Act-2, AT744.1	uc002hkw.1	P13236	OTTHUMG00000188414	ENST00000250151.4:c.97G>A	17.37:g.34431941G>A	ENSP00000250151:p.Ala33Thr					CCL4_ENST00000394495.1_Intron	p.A33T	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	413	+		Ovarian(249;0.17)	33					P22617|Q13704|Q3SXL8|Q6FGI8	Missense_Mutation	SNP	ENST00000250151.4	37	c.97G>A	CCDS11308.1	.	.	.	.	.	.	.	.	.	.	.	13.85	2.358798	0.41801	.	.	ENSG00000129277	ENST00000250151	T	0.13089	2.62	5.02	0.101	0.14517	Chemokine interleukin-8-like domain (3);	0.749563	0.10715	U	0.642403	T	0.09423	0.0232	.	.	.	0.80722	D	1	P	0.39282	0.666	B	0.35413	0.202	T	0.35919	-0.9769	9	0.22706	T	0.39	.	11.7628	0.51914	0.0:0.0:0.333:0.667	.	33	P13236	CCL4_HUMAN	T	33	ENSP00000250151:A33T	ENSP00000250151:A33T	A	+	1	0	CCL4	31456054	0.037000	0.19845	0.982000	0.44146	0.942000	0.58702	-0.001000	0.12947	0.235000	0.21160	-0.261000	0.10672	GCC		0.502	CCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256592.2	NM_002984		27	8	0	0	0	1	0	27	8				
MYO9A	4649	broad.mit.edu	37	15	72189919	72189919	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr15:72189919G>A	ENST00000356056.5	-	25	5397	c.4925C>T	c.(4924-4926)tCa>tTa	p.S1642L	MYO9A_ENST00000444904.1_Missense_Mutation_p.S1623L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.S1642L|MYO9A_ENST00000424560.1_Missense_Mutation_p.S1642L|MYO9A_ENST00000566885.1_Missense_Mutation_p.S1262L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1642	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCTCTTTTTGAAATGCGATT	0.438																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4924-4926)tCa>tTa		myosin IXA							155.0	138.0	144.0					15																	72189919		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72189919G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4925C>T	15.37:g.72189919G>A	ENSP00000348349:p.Ser1642Leu					MYO9A_ENST00000564571.1_Missense_Mutation_p.S1642L|MYO9A_ENST00000424560.1_Missense_Mutation_p.S1642L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.S1623L|MYO9A_ENST00000566885.1_Missense_Mutation_p.S1262L	p.S1642L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	5397	-			1642			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.4925C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382217	0.61845	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84800	-1.87;-1.9;-1.87	5.19	5.19	0.71726	.	.	.	.	.	T	0.79673	0.4486	L	0.29908	0.895	0.32320	N	0.562581	B;B;B	0.19200	0.034;0.003;0.02	B;B;B	0.21708	0.036;0.009;0.024	T	0.75590	-0.3265	9	0.26408	T	0.33	.	17.7866	0.88540	0.0:0.0:1.0:0.0	.	1623;1642;1642	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	L	1642;1642;1623	ENSP00000348349:S1642L;ENSP00000399162:S1642L;ENSP00000398250:S1623L	ENSP00000348349:S1642L	S	-	2	0	MYO9A	69976973	0.993000	0.37304	0.984000	0.44739	0.983000	0.72400	3.152000	0.50677	2.801000	0.96364	0.650000	0.86243	TCA		0.438	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		24	72	0	0	0	1	0	24	72				
ZFP41	286128	broad.mit.edu	37	8	144332575	144332575	+	Missense_Mutation	SNP	C	C	T	rs533687952		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr8:144332575C>T	ENST00000330701.4	+	2	931	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	ZFP41_ENST00000522452.1_Missense_Mutation_p.R188C|ZFP41_ENST00000520584.1_Missense_Mutation_p.R188C	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	188					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CTGTCTCATCCGCCATCAGAA	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15750	0.0		0.0	False		,,,				2504	0.0					ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(562-564)Cgc>Tgc		ZFP41 zinc finger protein							63.0	73.0	70.0					8																	144332575		2203	4300	6503	SO:0001583	missense	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332575C>T		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.562C>T	8.37:g.144332575C>T	ENSP00000327427:p.Arg188Cys					ZFP41_ENST00000522452.1_Missense_Mutation_p.R188C|ZFP41_ENST00000520584.1_Missense_Mutation_p.R188C	p.R188C	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	931	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		188					D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	c.562C>T	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674817	0.29783	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.36878	1.23;1.23;1.23	3.38	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39226	0.1070	M	0.80616	2.505	0.09310	N	1	D	0.63880	0.993	B	0.40534	0.332	T	0.33828	-0.9853	9	0.51188	T	0.08	-14.9516	10.638	0.45575	0.0:0.8036:0.1964:0.0	.	188	Q8N8Y5	ZFP41_HUMAN	C	188	ENSP00000430465:R188C;ENSP00000327427:R188C;ENSP00000428966:R188C	ENSP00000327427:R188C	R	+	1	0	ZFP41	144403950	0.000000	0.05858	0.001000	0.08648	0.744000	0.42396	-1.022000	0.03611	0.741000	0.32674	0.467000	0.42956	CGC		0.637	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		36	155	0	0	0	1	0	36	155				
SEC14L5	9717	broad.mit.edu	37	16	5057406	5057406	+	Silent	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr16:5057406G>A	ENST00000251170.7	+	13	1671	c.1491G>A	c.(1489-1491)gaG>gaA	p.E497E		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	497						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGACAGAAGAGGAGCAGGAGC	0.637																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1489-1491)gaG>gaA		SEC14-like 5 (S. cerevisiae)							44.0	47.0	46.0					16																	5057406		2078	4205	6283	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5057406G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1491G>A	16.37:g.5057406G>A							p.E497E	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			13	1671	+			497						Silent	SNP	ENST00000251170.7	37	c.1491G>A	CCDS45403.1																																																																																				0.637	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			33	26	0	0	0	1	0	33	26				
LRRC7	57554	broad.mit.edu	37	1	70225980	70225980	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:70225980C>T	ENST00000035383.5	+	1	123	c.93C>T	c.(91-93)caC>caT	p.H31H	LRRC7_ENST00000370958.1_Silent_p.H69H|LRRC7_ENST00000310961.5_Silent_p.H36H|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	31						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTACTCCCACTGCAGTCTTC	0.458																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(106-108)caC>caT		leucine rich repeat containing 7							77.0	76.0	76.0					1																	70225980		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70225980C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.93C>T	1.37:g.70225980C>T						LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Silent_p.H69H|LRRC7_ENST00000035383.5_Silent_p.H31H	p.H36H			Q96NW7	LRRC7_HUMAN			4	526	+			31					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.108C>T	CCDS645.1																																																																																				0.458	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		11	41	0	0	0	1	0	11	41				
PDE4DIP	9659	broad.mit.edu	37	1	144931010	144931010	+	Intron	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:144931010C>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313431.9_Missense_Mutation_p.M233I|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.M233I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTCTTCCTCCATGCTTTCTC	0.542			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(697-699)atG>atT		phosphodiesterase 4D interacting protein							116.0	117.0	116.0					1																	144931010		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144931010C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7189G>T	1.37:g.144931010C>A						PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.M233I|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron	p.M233I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1138	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.699G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546032	0.27652	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.11277	2.79;2.79	5.39	5.39	0.77823	.	.	.	.	.	T	0.12987	0.0315	L	0.51422	1.61	0.80722	D	1	D	0.57899	0.981	P	0.56563	0.801	T	0.02668	-1.1126	9	0.31617	T	0.26	.	14.651	0.68797	0.0:1.0:0.0:0.0	.	233	Q5VU43-2	.	I	233	ENSP00000316434:M233I;ENSP00000433392:M233I	ENSP00000316434:M233I	M	-	3	0	PDE4DIP	143642367	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	5.359000	0.66074	2.529000	0.85273	0.491000	0.48974	ATG		0.542	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		58	106	1	0	1.78197e-24	1	2.05143e-24	58	106				
TMEM63A	9725	broad.mit.edu	37	1	226036232	226036232	+	Silent	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:226036232T>C	ENST00000366835.3	-	23	2481	c.2211A>G	c.(2209-2211)aaA>aaG	p.K737K	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	737					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCTCACTTCCTTTGTCACTTG	0.483																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2209-2211)aaA>aaG		transmembrane protein 63A							89.0	92.0	91.0					1																	226036232		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226036232T>C		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2211A>G	1.37:g.226036232T>C							p.K737K	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			23	2481	-	Breast(184;0.197)		737					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.2211A>G	CCDS31042.1																																																																																				0.483	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		24	28	0	0	0	1	0	24	28				
ZNF730	100129543	broad.mit.edu	37	19	23328771	23328771	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:23328771G>C	ENST00000597761.2	+	4	1124	c.925G>C	c.(925-927)Gag>Cag	p.E309Q		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	309					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCATACTAAAGAGCAACCATA	0.348																																						ENST00000597761.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						c.(925-927)Gag>Cag		zinc finger protein 730																																				SO:0001583	missense	100129543							g.chr19:23328771G>C	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.925G>C	19.37:g.23328771G>C	ENSP00000472959:p.Glu309Gln						p.E309Q	NM_001277403.1	NP_001264332.1					4	1124	+									Missense_Mutation	SNP	ENST00000597761.2	37	c.925G>C	CCDS59371.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810592	0.50421	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.916	0.916	0.19373	.	.	.	.	.	T	0.45316	0.1336	L	0.42744	1.35	0.30898	N	0.729637	.	.	.	.	.	.	T	0.52830	-0.8523	6	0.72032	D	0.01	.	8.5828	0.33640	0.0:0.0:1.0:0.0	.	.	.	.	Q	309	.	ENSP00000329365:E309Q	E	+	1	0	ZNF730	23120611	0.995000	0.38212	0.006000	0.13384	0.006000	0.05464	3.569000	0.53827	0.300000	0.22699	0.305000	0.20034	GAG		0.348	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465737.2	XM_001719792		13	21	0	0	0	1	0	13	21				
KLHL14	57565	broad.mit.edu	37	18	30349804	30349804	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr18:30349804C>A	ENST00000359358.4	-	2	1189	c.751G>T	c.(751-753)Gag>Tag	p.E251*	AC012123.1_ENST00000426194.1_Nonsense_Mutation_p.S11*|KLHL14_ENST00000358095.4_Nonsense_Mutation_p.E251*	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	251	BACK.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ATGCGGGTCTCGCGGTCGTGC	0.672																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(751-753)Gag>Tag		kelch-like family member 14							36.0	35.0	35.0					18																	30349804		2203	4300	6503	SO:0001587	stop_gained	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349804C>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.751G>T	18.37:g.30349804C>A	ENSP00000352314:p.Glu251*					AC012123.1_ENST00000426194.1_Nonsense_Mutation_p.S11*|KLHL14_ENST00000358095.4_Nonsense_Mutation_p.E251*	p.E251*	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	1189	-			251			BACK.		A6NNW1|B4DHA0|Q8WU41	Nonsense_Mutation	SNP	ENST00000359358.4	37	c.751G>T	CCDS32813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.351417|7.351417	0.98231|0.98231	.|.	.|.	ENSG00000197705|ENSG00000228835	ENST00000359358;ENST00000358095|ENST00000426194	.|.	.|.	.|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.39692|0.25106	T|T	0.17|0.35	.|.	17.0807|17.0807	0.86598|0.86598	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|X	251|11	.|.	ENSP00000350808:E251X|ENSP00000393291:S11X	E|S	-|+	1|2	0|0	KLHL14|AC012123.1	28603802|28603802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.031000|6.031000	0.70911|0.70911	2.282000|2.282000	0.76494|0.76494	0.455000|0.455000	0.32223|0.32223	GAG|TCG		0.672	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			7	48	1	0	0.0381472	1	0.0383096	7	48				
RASGRP2	10235	broad.mit.edu	37	11	64496373	64496373	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:64496373G>A	ENST00000354024.3	-	15	1985	c.1733C>T	c.(1732-1734)tCt>tTt	p.S578F	RASGRP2_ENST00000394432.3_Missense_Mutation_p.S578F|RASGRP2_ENST00000377494.1_Missense_Mutation_p.S578F|RASGRP2_ENST00000377497.3_Missense_Mutation_p.S578F	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	578					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCGGGGCAGAGAGAAGCTGAA	0.642																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1732-1734)tCt>tTt		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							56.0	48.0	51.0					11																	64496373		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64496373G>A	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1733C>T	11.37:g.64496373G>A	ENSP00000338864:p.Ser578Phe					RASGRP2_ENST00000354024.3_Missense_Mutation_p.S578F|RASGRP2_ENST00000377497.3_Missense_Mutation_p.S578F|RASGRP2_ENST00000394432.3_Missense_Mutation_p.S578F	p.S578F			Q7LDG7	GRP2_HUMAN			14	2655	-			578					A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.1733C>T	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878642	0.72294	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.02	5.02	0.67125	.	0.312311	0.29876	N	0.010978	T	0.61236	0.2331	N	0.19112	0.55	0.80722	D	1	D;D	0.56968	0.978;0.978	P;P	0.45881	0.496;0.496	T	0.67845	-0.5565	10	0.72032	D	0.01	-0.043	14.2241	0.65848	0.0:0.0:1.0:0.0	.	578;578	Q7LDG7;A6NDC7	GRP2_HUMAN;.	F	578	ENSP00000366714:S578F;ENSP00000377953:S578F;ENSP00000366717:S578F;ENSP00000338864:S578F	ENSP00000338864:S578F	S	-	2	0	RASGRP2	64252949	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.103000	0.77014	2.501000	0.84356	0.650000	0.86243	TCT		0.642	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		5	32	0	0	0	1	0	5	32				
EMX2	2018	broad.mit.edu	37	10	119307725	119307725	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr10:119307725C>T	ENST00000553456.3	+	3	1565	c.741C>T	c.(739-741)gaC>gaT	p.D247D	EMX2_ENST00000442245.4_3'UTR|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	247					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGGAAATAGACGTGACCTCAG	0.468																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(739-741)gaC>gaT		empty spiracles homeobox 2							52.0	51.0	51.0					10																	119307725		2203	4300	6503	SO:0001819	synonymous_variant	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119307725C>T	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.741C>T	10.37:g.119307725C>T						EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_3'UTR	p.D247D	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	3	1565	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	247					G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	c.741C>T	CCDS7601.1																																																																																				0.468	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		12	6	0	0	0	1	0	12	6				
UFL1	23376	broad.mit.edu	37	6	96971131	96971131	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:96971131A>G	ENST00000369278.4	+	2	253	c.187A>G	c.(187-189)Agt>Ggt	p.S63G	UFL1-AS1_ENST00000430796.1_RNA	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	63	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AGCCCAAATTAGTAAAGAAAT	0.358																																						ENST00000369278.4																			0											c.(187-189)Agt>Ggt		UFM1-specific ligase 1							151.0	155.0	154.0					6																	96971131		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96971131A>G	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.187A>G	6.37:g.96971131A>G	ENSP00000358283:p.Ser63Gly						p.S63G	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			2	253	+			63			Required for E3 UFM1-protein ligase activity.		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.187A>G	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858169	0.51376	.	.	ENSG00000014123	ENST00000369278	T	0.46063	0.88	5.18	5.18	0.71444	.	0.124957	0.64402	D	0.000001	T	0.21881	0.0527	L	0.38175	1.15	0.49051	D	0.999741	B	0.28783	0.222	B	0.33960	0.173	T	0.07121	-1.0789	10	0.28530	T	0.3	-6.8614	13.8912	0.63740	1.0:0.0:0.0:0.0	.	63	O94874	UFL1_HUMAN	G	63	ENSP00000358283:S63G	ENSP00000358283:S63G	S	+	1	0	KIAA0776	97077852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.781000	0.68964	1.957000	0.56846	0.477000	0.44152	AGT		0.358	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		27	93	0	0	0	1	0	27	93				
SMURF1	57154	broad.mit.edu	37	7	98649869	98649869	+	Missense_Mutation	SNP	C	C	T	rs148949544		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:98649869C>T	ENST00000361125.1	-	7	999	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.R227Q	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	227					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCCGTGTGGTCGGTTCTGGGG	0.557																																						ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(679-681)cGa>cAa		SMAD specific E3 ubiquitin protein ligase 1		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	157.0	141.0	147.0		680,680,680	3.7	1.0	7	dbSNP_134	147	0,8600		0,0,4300	no	missense,missense,missense	SMURF1	NM_001199847.1,NM_020429.2,NM_181349.2	43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	227/729,227/758,227/732	98649869	1,13005	2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98649869C>T	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.680G>A	7.37:g.98649869C>T	ENSP00000354621:p.Arg227Gln					SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.R227Q	p.R227Q	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		7	999	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		227					A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.680G>A	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991451	0.93106	2.27E-4	0.0	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.50813	1.22;0.73	5.55	3.69	0.42338	WW/Rsp5/WWP (1);	0.052319	0.64402	N	0.000001	T	0.51787	0.1695	L	0.43923	1.385	0.54753	D	0.999988	D;D;B	0.62365	0.991;0.985;0.11	P;P;B	0.59357	0.856;0.63;0.028	T	0.38993	-0.9635	10	0.20519	T	0.43	.	11.0064	0.47637	0.0:0.7996:0.1301:0.0703	.	227;227;227	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	Q	227	ENSP00000355326:R227Q;ENSP00000354621:R227Q	ENSP00000354621:R227Q	R	-	2	0	SMURF1	98487805	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	7.604000	0.82830	0.669000	0.31146	0.650000	0.86243	CGA		0.557	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		5	216	0	0	0	1	0	5	216				
PPAPDC1A	196051	broad.mit.edu	37	10	122349000	122349000	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr10:122349000G>A	ENST00000398250.1	+	7	1154	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	PPAPDC1A_ENST00000398248.1_3'UTR|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.E258K|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.E205K	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	268					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GGGGATCACCGAAGGCCCGGT	0.552																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(802-804)Gaa>Aaa		phosphatidic acid phosphatase type 2 domain containing 1A							39.0	45.0	43.0					10																	122349000		2036	4194	6230	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122349000G>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.802G>A	10.37:g.122349000G>A	ENSP00000381302:p.Glu268Lys					PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.E258K|PPAPDC1A_ENST00000398248.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.E205K	p.E268K	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	7	1154	+		Lung NSC(174;0.1)|all_lung(145;0.132)	268					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.802G>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526367	0.96431	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000369073	T;T	0.48522	0.81;0.81	5.36	5.36	0.76844	.	0.523688	0.21392	N	0.075287	T	0.33585	0.0868	N	0.19112	0.55	0.80722	D	1	B;D	0.59357	0.207;0.985	B;B	0.38296	0.043;0.27	T	0.14699	-1.0463	9	.	.	.	-0.3227	19.0868	0.93206	0.0:0.0:1.0:0.0	.	205;268	Q5VZY2-2;Q5VZY2	.;PPC1A_HUMAN	K	205;268;258	ENSP00000381302:E268K;ENSP00000358069:E258K	.	E	+	1	0	PPAPDC1A	122338990	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	9.291000	0.96070	2.511000	0.84671	0.655000	0.94253	GAA		0.552	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		10	30	0	0	0	1	0	10	30				
CLIC6	54102	broad.mit.edu	37	21	36081793	36081793	+	Missense_Mutation	SNP	C	C	T	rs141470374		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr21:36081793C>T	ENST00000360731.3	+	6	1910	c.1910C>T	c.(1909-1911)aCg>aTg	p.T637M	CLIC6_ENST00000349499.2_Missense_Mutation_p.T619M			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	637	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GACGAGCTGACGCTGGCTGAC	0.478																																						ENST00000360731.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1909-1911)aCg>aTg		chloride intracellular channel 6		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	81.0	76.0	78.0		1856	5.3	1.0	21	dbSNP_134	78	0,8600		0,0,4300	yes	missense	CLIC6	NM_053277.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	619/687	36081793	1,13005	2203	4300	6503	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36081793C>T	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1910C>T	21.37:g.36081793C>T	ENSP00000353959:p.Thr637Met					CLIC6_ENST00000349499.2_Missense_Mutation_p.T619M	p.T637M			Q96NY7	CLIC6_HUMAN			6	1910	+			637			GST C-terminal.		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.1910C>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.197415	0.79015	2.27E-4	0.0	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.97256	-4.31;-4.31	6.17	5.28	0.74379	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.054016	0.64402	D	0.000001	D	0.98940	0.9640	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99278	1.0895	10	0.87932	D	0	-24.7497	18.6961	0.91601	0.0:0.8566:0.1434:0.0	.	637;619	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	M	637;619	ENSP00000353959:T637M;ENSP00000290332:T619M	ENSP00000290332:T619M	T	+	2	0	CLIC6	35003663	1.000000	0.71417	0.973000	0.42090	0.797000	0.45037	4.857000	0.62939	2.941000	0.99782	0.655000	0.94253	ACG		0.478	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			18	46	0	0	0	1	0	18	46				
R3HCC1L	27291	broad.mit.edu	37	10	99968590	99968590	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr10:99968590G>A	ENST00000298999.3	+	5	1022	c.719G>A	c.(718-720)aGc>aAc	p.S240N	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S240N|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	240							nucleotide binding (GO:0000166)										ATAAAACTAAGCTCTGATTCT	0.378																																						ENST00000298999.3																			0											c.(718-720)aGc>aAc		R3H domain and coiled-coil containing 1-like							69.0	70.0	69.0					10																	99968590		2203	4300	6503	SO:0001583	missense	27291							g.chr10:99968590G>A	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.719G>A	10.37:g.99968590G>A	ENSP00000298999:p.Ser240Asn					R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S240N|R3HCC1L_ENST00000370586.2_Intron	p.S240N	NM_014472.4	NP_055287.4					5	1022	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	c.719G>A	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	1.354	-0.590574	0.03799	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.10477	2.87;2.87	5.56	-2.57	0.06248	.	0.855083	0.10657	N	0.649165	T	0.05410	0.0143	N	0.20685	0.6	0.22354	N	0.999173	B;B	0.14012	0.009;0.009	B;B	0.16722	0.016;0.016	T	0.43686	-0.9376	9	.	.	.	0.051	4.9287	0.13907	0.4632:0.2965:0.2403:0.0	.	240;240	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	N	240	ENSP00000359616:S240N;ENSP00000298999:S240N	.	S	+	2	0	C10orf28	99958580	0.001000	0.12720	0.017000	0.16124	0.062000	0.15995	-0.578000	0.05841	-0.199000	0.10317	0.655000	0.94253	AGC		0.378	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		18	47	0	0	0	1	0	18	47				
LZTR1	8216	broad.mit.edu	37	22	21349209	21349209	+	Silent	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr22:21349209C>A	ENST00000215739.8	+	16	2195	c.1836C>A	c.(1834-1836)atC>atA	p.I612I	LZTR1_ENST00000389355.3_Silent_p.I593I|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	612					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACCAGGTGATCATGATGAAGG	0.617																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1834-1836)atC>atA		leucine-zipper-like transcription regulator 1							99.0	90.0	93.0					22																	21349209		2203	4300	6503	SO:0001819	synonymous_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349209C>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1836C>A	22.37:g.21349209C>A						LZTR1_ENST00000389355.3_Silent_p.I593I|LZTR1_ENST00000479606.1_3'UTR	p.I612I	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		16	2195	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	612					Q14776|Q20WK0	Silent	SNP	ENST00000215739.8	37	c.1836C>A	CCDS33606.1																																																																																				0.617	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		19	124	1	0	3.99206e-14	1	4.46505e-14	19	124				
ATP5J	522	broad.mit.edu	37	21	27097592	27097592	+	Silent	SNP	G	G	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr21:27097592G>C	ENST00000400093.3	-	3	925	c.234C>G	c.(232-234)ctC>ctG	p.L78L	ATP5J_ENST00000400094.1_Silent_p.L78L|ATP5J_ENST00000400090.3_Silent_p.L78L|ATP5J_ENST00000457143.2_Silent_p.L86L|ATP5J_ENST00000400087.3_Silent_p.L78L|ATP5J_ENST00000400099.1_Silent_p.L78L|ATP5J_ENST00000284971.3_Silent_p.L78L	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	78					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						ACATTTGCTTGAGCTTAAAAA	0.383																																					Colon(101;404 1513 9184 32221 46005)	ENST00000400093.3																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						c.(232-234)ctC>ctG		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6							88.0	79.0	82.0					21																	27097592		2203	4300	6503	SO:0001819	synonymous_variant	522				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr21:27097592G>C	M37104	CCDS13574.1, CCDS46637.1	21q21.1	2012-10-12	2010-06-11		ENSG00000154723	ENSG00000154723		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	847	protein-coding gene	gene with protein product	"""coupling factor 6"""	603152	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6"""	ATP5A, ATP5, ATPM		1830479, 1825642	Standard	NM_001685		Approved	CF6	uc002ylt.3	P18859	OTTHUMG00000078442	ENST00000400093.3:c.234C>G	21.37:g.27097592G>C						ATP5J_ENST00000400094.1_Silent_p.L78L|ATP5J_ENST00000457143.2_Silent_p.L86L|ATP5J_ENST00000284971.3_Silent_p.L78L|ATP5J_ENST00000400087.3_Silent_p.L78L|ATP5J_ENST00000400099.1_Silent_p.L78L|ATP5J_ENST00000400090.3_Silent_p.L78L	p.L78L	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN			3	925	-			78					J3KQ83	Silent	SNP	ENST00000400093.3	37	c.234C>G	CCDS13574.1																																																																																				0.383	ATP5J-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171357.1	NM_001685		12	40	0	0	0	1	0	12	40				
CHD8	57680	broad.mit.edu	37	14	21862286	21862286	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr14:21862286T>C	ENST00000557364.1	-	32	5931	c.5668A>G	c.(5668-5670)Ata>Gta	p.I1890V	CHD8_ENST00000399982.2_Missense_Mutation_p.I1890V|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.I1611V|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1890					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGCAATTCTATACGGTAGAGA	0.512																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(5668-5670)Ata>Gta		chromodomain helicase DNA binding protein 8							51.0	50.0	50.0					14																	21862286		1869	4107	5976	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21862286T>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5668A>G	14.37:g.21862286T>C	ENSP00000451601:p.Ile1890Val					CHD8_ENST00000557364.1_Missense_Mutation_p.I1890V|CHD8_ENST00000430710.3_Missense_Mutation_p.I1611V	p.I1890V	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	31	5732	-	all_cancers(95;0.00121)		1890					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.5668A>G	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	T	9.866	1.197509	0.22037	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.85171	-1.95;-1.95;-1.95	5.41	5.41	0.78517	.	0.074279	0.64402	D	0.000005	D	0.83335	0.5232	L	0.46614	1.455	0.38254	D	0.941706	B	0.25667	0.131	B	0.38712	0.28	T	0.82378	-0.0487	10	0.46703	T	0.11	-17.2223	9.8806	0.41231	0.1525:0.0:0.0:0.8475	.	1611	Q9HCK8-2	.	V	1611;1890;1610;1890	ENSP00000406288:I1611V;ENSP00000382863:I1890V;ENSP00000451601:I1890V	ENSP00000262707:I1610V	I	-	1	0	CHD8	20932126	1.000000	0.71417	0.987000	0.45799	0.919000	0.55068	2.580000	0.46068	2.272000	0.75746	0.460000	0.39030	ATA		0.512	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		61	17	0	0	0	1	0	61	17				
BAALC	79870	broad.mit.edu	37	8	104240299	104240299	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr8:104240299G>A	ENST00000297574.6	+	4	654	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	BAALC_ENST00000523754.1_3'UTR|BAALC_ENST00000309982.5_Missense_Mutation_p.R137Q|BAALC_ENST00000438105.2_3'UTR|RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA|RP11-318M2.3_ENST00000523775.1_RNA			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	172						cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GACAGAAGTCGAAGAATCACA	0.438																																						ENST00000309982.5																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(409-411)cGa>cAa		brain and acute leukemia, cytoplasmic							114.0	98.0	103.0					8																	104240299		2203	4300	6503	SO:0001583	missense	79870					centrosome|membrane|nucleus		g.chr8:104240299G>A	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.515G>A	8.37:g.104240299G>A	ENSP00000297574:p.Arg172Gln					RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_3'UTR|BAALC_ENST00000297574.6_Missense_Mutation_p.R172Q|BAALC_ENST00000523754.1_3'UTR|RP11-318M2.2_ENST00000523614.2_RNA	p.R137Q	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)		3	598	+			172					Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37	c.410G>A		.	.	.	.	.	.	.	.	.	.	G	12.76	2.033905	0.35893	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.46063	0.92;0.88	4.94	-2.58	0.06228	.	1.217810	0.06144	N	0.672814	T	0.26991	0.0661	.	.	.	0.80722	D	1	B;B	0.18013	0.016;0.025	B;B	0.09377	0.002;0.004	T	0.04752	-1.0929	9	0.32370	T	0.25	0.9644	5.2698	0.15618	0.6045:0.0:0.2422:0.1533	.	172;137	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	Q	137;172	ENSP00000312457:R137Q;ENSP00000297574:R172Q	ENSP00000297574:R172Q	R	+	2	0	BAALC	104309475	0.998000	0.40836	0.688000	0.30117	0.990000	0.78478	0.508000	0.22692	-0.848000	0.04163	-0.229000	0.12294	CGA		0.438	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1			11	60	0	0	0	1	0	11	60				
CYP2R1	120227	broad.mit.edu	37	11	14913743	14913743	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:14913743C>A	ENST00000334636.5	-	1	55	c.9G>T	c.(7-9)aaG>aaT	p.K3N	CYP2R1_ENST00000526489.1_5'Flank|CYP2R1_ENST00000532378.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	3					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	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)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTCTCCAAAGCTTCCACATCG	0.672																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(7-9)aaG>aaT		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						10.0	13.0	12.0					11																	14913743		2079	4073	6152	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14913743C>A	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.9G>T	11.37:g.14913743C>A	ENSP00000334592:p.Lys3Asn						p.K3N	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN			1	55	-			3					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.9G>T	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594327	0.46214	.	.	ENSG00000186104	ENST00000334636	T	0.69685	-0.42	4.91	-5.91	0.02269	.	1.080870	0.07003	N	0.823718	T	0.38161	0.1030	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.22452	-1.0216	10	0.19590	T	0.45	.	7.5005	0.27516	0.1995:0.6035:0.1:0.0969	.	3	Q6VVX0	CP2R1_HUMAN	N	3	ENSP00000334592:K3N	ENSP00000334592:K3N	K	-	3	2	CYP2R1	14870319	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.103000	0.03329	-0.457000	0.07033	-0.605000	0.04089	AAG		0.672	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		6	15	1	0	1	1	1	6	15				
CXCL6	6372	broad.mit.edu	37	4	74702999	74702999	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr4:74702999G>A	ENST00000226317.5	+	3	576	c.322G>A	c.(322-324)Gac>Aac	p.D108N	CXCL6_ENST00000515050.1_Missense_Mutation_p.D108N|CXCL6_ENST00000503446.1_3'UTR	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	108					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAAAATTTTGGACAGGTATTT	0.393																																						ENST00000226317.5																			0				large_intestine(1)|lung(7)	8						c.(322-324)Gac>Aac		chemokine (C-X-C motif) ligand 6							72.0	78.0	76.0					4																	74702999		2203	4300	6503	SO:0001583	missense	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702999G>A	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.322G>A	4.37:g.74702999G>A	ENSP00000226317:p.Asp108Asn					CXCL6_ENST00000515050.1_Missense_Mutation_p.D108N|CXCL6_ENST00000503446.1_3'UTR	p.D108N	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		3	576	+	Breast(15;0.00102)		108					B2R4X3|Q4W5D4	Missense_Mutation	SNP	ENST00000226317.5	37	c.322G>A	CCDS3560.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.289370	0.01387	.	.	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.28666	2.04;1.6	3.87	2.96	0.34315	Chemokine interleukin-8-like domain (1);	0.628765	0.17685	N	0.165491	T	0.15912	0.0383	N	0.21583	0.68	0.09310	N	1	B	0.30824	0.296	B	0.19946	0.027	T	0.14090	-1.0485	10	0.27082	T	0.32	.	6.6816	0.23123	0.1451:0.0:0.8549:0.0	.	108	P80162	CXCL6_HUMAN	N	108	ENSP00000226317:D108N;ENSP00000424819:D108N	ENSP00000226317:D108N	D	+	1	0	CXCL6	74921863	0.460000	0.25776	0.416000	0.26546	0.002000	0.02628	0.491000	0.22419	0.873000	0.35799	-0.355000	0.07637	GAC		0.393	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		29	85	0	0	0	1	0	29	85				
ZFPL1	7542	broad.mit.edu	37	11	64855502	64855502	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:64855502G>T	ENST00000294258.3	+	8	1001	c.849G>T	c.(847-849)atG>atT	p.M283I	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	283					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TTGCCCTCATGTCTCGCCTAG	0.692																																						ENST00000294258.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(847-849)atG>atT		zinc finger protein-like 1							81.0	81.0	81.0					11																	64855502		2201	4297	6498	SO:0001583	missense	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64855502G>T		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.849G>T	11.37:g.64855502G>T	ENSP00000294258:p.Met283Ile						p.M283I	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN			8	1001	+			283					A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	c.849G>T	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558512	0.65538	.	.	ENSG00000162300	ENST00000294258	T	0.46451	0.87	5.14	5.14	0.70334	.	0.172050	0.64402	D	0.000010	T	0.32645	0.0836	L	0.27053	0.805	0.80722	D	1	B	0.13594	0.008	B	0.17979	0.02	T	0.05517	-1.0880	10	0.31617	T;T	0.26;0.26	-12.3345	16.121	0.81357	0.0:0.0:1.0:0.0	.	283	O95159	ZFPL1_HUMAN	I	283	ENSP00000294258:M283I	ENSP00000294258:M283I;ENSP00000294258:M283I	M	+	3	0	ZFPL1	64612078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.153000	0.77428	2.667000	0.90743	0.655000	0.94253	ATG		0.692	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		29	109	1	0	3.33393e-15	1	3.76463e-15	29	109				
HAL	3034	broad.mit.edu	37	12	96389516	96389516	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr12:96389516C>A	ENST00000261208.3	-	2	541	c.173G>T	c.(172-174)tGc>tTc	p.C58F	HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.C58F|RP11-256L6.3_ENST00000551849.1_RNA	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	58					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CAGGCCCTTGCACCGGCGCAC	0.647																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(172-174)tGc>tTc		histidine ammonia-lyase	L-Histidine(DB00117)						63.0	56.0	58.0					12																	96389516		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96389516C>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.173G>T	12.37:g.96389516C>A	ENSP00000261208:p.Cys58Phe					HAL_ENST00000538703.1_Missense_Mutation_p.C58F|HAL_ENST00000541929.1_5'UTR	p.C58F	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			2	541	-			58					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.173G>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546827	0.86022	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	T;T;D	0.86164	-1.1;-1.07;-2.08	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	M	0.65975	2.015	0.80722	D	1	P;D	0.53151	0.838;0.958	B;B	0.40165	0.321;0.321	D	0.89051	0.3455	10	0.72032	D	0.01	-17.9423	19.2839	0.94063	0.0:1.0:0.0:0.0	.	58;58	F5GXF2;P42357	.;HUTH_HUMAN	F	58	ENSP00000261208:C58F;ENSP00000440861:C58F;ENSP00000450372:C58F	ENSP00000261208:C58F	C	-	2	0	HAL	94913647	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	7.445000	0.80570	2.629000	0.89072	0.561000	0.74099	TGC		0.647	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			7	64	1	0	8.12818e-05	1	8.41338e-05	7	64				
CSMD3	114788	broad.mit.edu	37	8	113871474	113871474	+	Missense_Mutation	SNP	A	A	C	rs563451721		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr8:113871474A>C	ENST00000297405.5	-	11	1899	c.1655T>G	c.(1654-1656)cTt>cGt	p.L552R	CSMD3_ENST00000343508.3_Missense_Mutation_p.L512R|CSMD3_ENST00000352409.3_Missense_Mutation_p.L552R|CSMD3_ENST00000455883.2_Missense_Mutation_p.L448R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	552	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCCTTGAAGATTAGAGCC	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A|||	1	0.000199681	0.0008	0.0	5008	,	,		17132	0.0		0.0	False		,,,				2504	0.0					ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1654-1656)cTt>cGt		CUB and Sushi multiple domains 3							115.0	100.0	105.0					8																	113871474		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113871474A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1655T>G	8.37:g.113871474A>C	ENSP00000297405:p.Leu552Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.L512R|CSMD3_ENST00000455883.2_Missense_Mutation_p.L448R|CSMD3_ENST00000352409.3_Missense_Mutation_p.L552R	p.L552R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			11	1899	-			552			CUB 3.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1655T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.634792	0.87760	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.66	5.66	0.87406	CUB (5);	0.000000	0.64402	D	0.000014	T	0.63651	0.2529	M	0.87827	2.91	0.41319	D	0.987169	D;D;P	0.56746	0.977;0.966;0.953	D;D;P	0.69142	0.937;0.962;0.908	T	0.65759	-0.6090	10	0.28530	T	0.3	.	15.8971	0.79344	1.0:0.0:0.0:0.0	.	448;552;512	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	512;552;448;552	ENSP00000345799:L512R;ENSP00000297405:L552R;ENSP00000412263:L448R;ENSP00000343124:L552R	ENSP00000297405:L552R	L	-	2	0	CSMD3	113940650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.251000	0.95483	2.150000	0.67090	0.477000	0.44152	CTT		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	113	0	0	0	1	0	21	113				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			374491							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			8	53	0	0	0	1	0	8	53				
PIK3CA	5290	broad.mit.edu	37	3	178927974	178927974	+	Splice_Site	SNP	G	G	A	rs397517199		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:178927974G>A	ENST00000263967.3	+	8	1409	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	418	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E418K(6)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTTTTTTAAGGAACACTGTCC	0.323		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		6	Substitution - Missense(6)	p.E418K(6)	breast(3)|endometrium(3)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e8-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							76.0	71.0	73.0					3																	178927974		1815	4074	5889	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178927974G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1252-1G>A	3.37:g.178927974G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E418_splice	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1409	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		418			C2 PI3K-type.		Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.1251_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850573	0.71719	.	.	ENSG00000121879	ENST00000263967	T	0.74421	-0.84	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.057452	0.64402	D	0.000002	T	0.80529	0.4640	L	0.39633	1.23	0.80722	D	1	D	0.58268	0.982	P	0.62560	0.904	T	0.77955	-0.2393	9	.	.	.	-10.6747	19.4127	0.94681	0.0:0.0:1.0:0.0	.	418	P42336	PK3CA_HUMAN	K	418	ENSP00000263967:E418K	.	E	+	1	0	PIK3CA	180410668	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.605000	0.88082	0.563000	0.77884	GAA		0.323	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	17	105	0	0	0	1	0	17	105				
LYPLAL1	127018	broad.mit.edu	37	1	219384841	219384841	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:219384841A>C	ENST00000366928.5	+	5	532	c.485A>C	c.(484-486)cAg>cCg	p.Q162P	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Missense_Mutation_p.Q146P	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	162					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TAGGCTCTTCAGAAGAGTAAT	0.338																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6						c.(484-486)cAg>cCg		lysophospholipase-like 1							113.0	114.0	114.0					1																	219384841		2203	4299	6502	SO:0001583	missense	127018					cytoplasm	lysophospholipase activity	g.chr1:219384841A>C	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.485A>C	1.37:g.219384841A>C	ENSP00000355895:p.Gln162Pro					LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Missense_Mutation_p.Q146P	p.Q162P	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	5	532	+			162					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Missense_Mutation	SNP	ENST00000366928.5	37	c.485A>C	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.791283	0.31685	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	T;T	0.22336	1.96;1.96	6.16	6.16	0.99307	Phospholipase/carboxylesterase/thioesterase (1);	0.284581	0.38058	N	0.001822	T	0.18509	0.0444	N	0.21240	0.645	0.43355	D	0.995421	B;B;B	0.27264	0.143;0.173;0.125	B;B;B	0.32928	0.078;0.062;0.155	T	0.08576	-1.0715	10	0.24483	T	0.36	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	38;146;162	B3KVW3;Q5VWZ2-2;Q5VWZ2	.;.;LYPL1_HUMAN	P	162;146	ENSP00000355895:Q162P;ENSP00000355894:Q146P	ENSP00000355894:Q146P	Q	+	2	0	LYPLAL1	217451464	0.994000	0.37717	0.997000	0.53966	0.302000	0.27658	2.004000	0.40854	2.367000	0.80283	0.528000	0.53228	CAG		0.338	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		12	99	0	0	0	1	0	12	99				
DCANP1	140947	broad.mit.edu	37	5	134782660	134782660	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr5:134782660C>G	ENST00000503143.2	-	1	378	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		47						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAAAGTTCTCTGGTGGAGCT	0.612																																						ENST00000503143.2																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(139-141)Gag>Cag		chromosome 5 open reading frame 20							24.0	25.0	25.0					5																	134782660		2203	4300	6503	SO:0001583	missense	140947					nucleus		g.chr5:134782660C>G																												ENST00000503143.2:c.139G>C	5.37:g.134782660C>G	ENSP00000421871:p.Glu47Gln					TIFAB_ENST00000537858.1_3'UTR	p.E47Q	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	378	-			47						Missense_Mutation	SNP	ENST00000503143.2	37	c.139G>C	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	C	3.879	-0.026244	0.07589	.	.	ENSG00000251380	ENST00000503143	T	0.38887	1.11	2.94	-1.2	0.09554	.	.	.	.	.	T	0.19366	0.0465	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.17623	-1.0363	9	0.87932	D	0	.	3.9259	0.09263	0.0:0.3479:0.3922:0.2598	.	47	Q8TF63	DCNP1_HUMAN	Q	47	ENSP00000421871:E47Q	ENSP00000421871:E47Q	E	-	1	0	C5orf20	134810559	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.219000	0.09228	-0.306000	0.08818	-0.440000	0.05779	GAG		0.612	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			8	10	0	0	0	1	0	8	10				
TLR4	7099	broad.mit.edu	37	9	120476158	120476158	+	Silent	SNP	T	T	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr9:120476158T>G	ENST00000355622.6	+	3	1853	c.1752T>G	c.(1750-1752)acT>acG	p.T584T	TLR4_ENST00000394487.4_Silent_p.T544T|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	584	LRRCT.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTGCTTGTACTTGTGAACACC	0.418																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1750-1752)acT>acG		toll-like receptor 4							83.0	74.0	77.0					9																	120476158		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476158T>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1752T>G	9.37:g.120476158T>G						TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.T544T	p.T584T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1853	+			584			LRRCT.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1752T>G	CCDS6818.1																																																																																				0.418	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		20	45	0	0	0	1	0	20	45				
DST	667	broad.mit.edu	37	6	56484340	56484340	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:56484340C>G	ENST00000370765.6	-	23	4599	c.4492G>C	c.(4492-4494)Gag>Cag	p.E1498Q	DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATTCTTCTCAGCTACAGCA	0.323																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4492-4494)Gag>Cag		dystonin							90.0	87.0	88.0					6																	56484340		2203	4299	6502	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56484340C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4492G>C	6.37:g.56484340C>G	ENSP00000359801:p.Glu1498Gln					DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron	p.E1498Q	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	4599	-	Lung NSC(77;0.103)		5177					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.4492G>C	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398333	0.25205	.	.	ENSG00000151914	ENST00000370765	T	0.32988	1.43	5.4	4.54	0.55810	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.09310	N	0.999996	P	0.45827	0.867	P	0.48030	0.564	T	0.04811	-1.0925	7	0.42905	T	0.14	.	14.3831	0.66923	0.0:0.9284:0.0:0.0716	.	1498	Q03001-3	.	Q	1498	ENSP00000359801:E1498Q	ENSP00000359801:E1498Q	E	-	1	0	DST	56592299	0.909000	0.30893	0.535000	0.28026	0.060000	0.15804	1.898000	0.39809	1.279000	0.44446	0.650000	0.86243	GAG		0.323	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		15	69	0	0	0	1	0	15	69				
CT47B1	643311	broad.mit.edu	37	X	120009357	120009357	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chrX:120009357C>T	ENST00000371311.3	-	1	422	c.168G>A	c.(166-168)ggG>ggA	p.G56G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	56										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTTCCACGGGCCCTGCGACTC	0.746																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(166-168)ggG>ggA		cancer/testis antigen family 47, member B1							4.0	6.0	5.0					X																	120009357		633	1457	2090	SO:0001819	synonymous_variant	643311							g.chrX:120009357C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.168G>A	X.37:g.120009357C>T							p.G56G	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	422	-			56					A6NM97	Silent	SNP	ENST00000371311.3	37	c.168G>A	CCDS48161.1																																																																																				0.746	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		11	30	0	0	0	1	0	11	30				
CCDC150	284992	broad.mit.edu	37	2	197584280	197584280	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:197584280C>T	ENST00000389175.4	+	19	2190	c.2055C>T	c.(2053-2055)atC>atT	p.I685I	CCDC150_ENST00000272831.7_Silent_p.I332I|CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000409270.1_Silent_p.I172I	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	685										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGTCACAATCATGTTGGAGA	0.438																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2053-2055)atC>atT		coiled-coil domain containing 150							103.0	101.0	101.0					2																	197584280		1907	4129	6036	SO:0001819	synonymous_variant	284992							g.chr2:197584280C>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.2055C>T	2.37:g.197584280C>T						CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Silent_p.I332I|CCDC150_ENST00000409270.1_Silent_p.I172I	p.I685I	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			19	2190	+			685					Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	c.2055C>T	CCDS46478.1																																																																																				0.438	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		4	123	0	0	0	1	0	4	123				
EPHA7	2045	broad.mit.edu	37	6	94129050	94129050	+	Missense_Mutation	SNP	G	G	C	rs202112730		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:94129050G>C	ENST00000369303.4	-	1	194	c.10C>G	c.(10-12)Caa>Gaa	p.Q4E	EPHA7_ENST00000369297.1_Missense_Mutation_p.Q4E	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	4					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TACCGAGTTTGAAAAACCATG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		13828	0.0		0.001	False		,,,				2504	0.0					ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(10-12)Caa>Gaa		EPH receptor A7							107.0	99.0	102.0					6																	94129050		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94129050G>C	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.10C>G	6.37:g.94129050G>C	ENSP00000358309:p.Gln4Glu					EPHA7_ENST00000369297.1_Missense_Mutation_p.Q4E	p.Q4E	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	1	194	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	4					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.10C>G	CCDS5031.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.96	2.391466	0.42410	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.70986	-0.53;4.48	4.76	4.76	0.60689	.	0.362514	0.25329	N	0.031448	T	0.34106	0.0886	N	0.08118	0	0.24301	N	0.995121	B;B;B;B	0.14438	0.01;0.005;0.01;0.006	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.17410	-1.0370	10	0.34782	T	0.22	.	15.9381	0.79734	0.0:0.0:1.0:0.0	.	4;4;4;4	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	E	4	ENSP00000358309:Q4E;ENSP00000358303:Q4E	ENSP00000358303:Q4E	Q	-	1	0	EPHA7	94185771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.836000	0.55813	2.189000	0.69895	0.555000	0.69702	CAA		0.438	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			84	437	0	0	0	1	0	84	437				
ALS2CR12	130540	broad.mit.edu	37	2	202153425	202153425	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:202153425C>A	ENST00000286190.5	-	14	1337	c.1291G>T	c.(1291-1293)Gat>Tat	p.D431Y	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.D408Y|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.D408Y|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.D431Y			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	431					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GTGTCAGAATCATCCTTAGAA	0.373																																						ENST00000405148.2																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1291-1293)Gat>Tat		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12							151.0	136.0	141.0					2																	202153425		2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202153425C>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.1291G>T	2.37:g.202153425C>A	ENSP00000286190:p.Asp431Tyr					ALS2CR12_ENST00000439709.1_Missense_Mutation_p.D408Y|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.D431Y|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.D408Y	p.D431Y	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN			15	1734	-			431					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.1291G>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	7.481	0.648603	0.14516	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.52983	0.64;0.64;0.66;0.66	4.24	-3.0	0.05480	.	1.541490	0.03850	N	0.272113	T	0.27098	0.0664	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.23332	-1.0191	10	0.72032	D	0.01	3.2541	3.4525	0.07503	0.3439:0.2158:0.0:0.4404	.	431;408	Q96Q35;G5E9S3	AL2SB_HUMAN;.	Y	431;431;408;408	ENSP00000286190:D431Y;ENSP00000385098:D431Y;ENSP00000376086:D408Y;ENSP00000412073:D408Y	ENSP00000286190:D431Y	D	-	1	0	ALS2CR12	201861670	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.732000	0.04904	-0.546000	0.06216	-0.373000	0.07131	GAT		0.373	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		14	44	1	0	3.27435e-08	1	3.54471e-08	14	44				
SLC45A4	57210	broad.mit.edu	37	8	142228950	142228950	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr8:142228950C>A	ENST00000024061.3	-	4	943	c.636G>T	c.(634-636)gaG>gaT	p.E212D	SLC45A4_ENST00000433583.2_Missense_Mutation_p.E205D|SLC45A4_ENST00000517878.1_Missense_Mutation_p.E263D|SLC45A4_ENST00000519067.1_Missense_Mutation_p.E212D	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGCGCTGCGCTCCTGCTGCG	0.662																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(634-636)gaG>gaT		solute carrier family 45, member 4							63.0	68.0	66.0					8																	142228950		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228950C>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.636G>T	8.37:g.142228950C>A	ENSP00000024061:p.Glu212Asp					SLC45A4_ENST00000517878.1_Missense_Mutation_p.E263D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.E205D|SLC45A4_ENST00000024061.3_Missense_Mutation_p.E212D	p.E212D			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	939	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		263					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.636G>T	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	1.692	-0.503873	0.04261	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	D;D;D;D;T	0.88277	-2.36;-2.36;-2.36;-2.36;1.01	5.57	1.28	0.21552	.	0.308438	0.37715	N	0.001961	T	0.71846	0.3388	N	0.04297	-0.235	0.23712	N	0.997047	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.007;0.005;0.005	T	0.57797	-0.7749	10	0.15952	T	0.53	-26.9722	9.7242	0.40322	0.1864:0.2562:0.5573:0.0	.	263;212;212	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	D	212;263;205;212;70	ENSP00000429059:E212D;ENSP00000428137:E263D;ENSP00000400799:E205D;ENSP00000024061:E212D;ENSP00000429033:E70D	ENSP00000024061:E212D	E	-	3	2	SLC45A4	142298132	0.650000	0.27331	0.993000	0.49108	0.496000	0.33645	-0.166000	0.09954	0.703000	0.31848	0.555000	0.69702	GAG		0.662	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		6	194	1	0	3.59834e-05	1	3.77425e-05	6	194				
ALPP	250	broad.mit.edu	37	2	233246071	233246071	+	Missense_Mutation	SNP	G	G	A	rs146681711	byFrequency	TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:233246071G>A	ENST00000392027.2	+	10	1572	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	435					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TACCGAGAGCGAGAGCGGTGA	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		20740	0.002		0.0	False		,,,				2504	0.0					ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1303-1305)Gag>Aag		alkaline phosphatase, placental		G	LYS/GLU	0,4406		0,0,2203	55.0	64.0	61.0		1303	-1.5	0.0	2	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALPP	NM_001632.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	435/536	233246071	1,13005	2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246071G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1303G>A	2.37:g.233246071G>A	ENSP00000375881:p.Glu435Lys					AC068134.8_ENST00000441266.1_RNA	p.E435K	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	10	1572	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	435					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.1303G>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679359	0.29783	0.0	1.16E-4	ENSG00000163283	ENST00000392027	D	0.96830	-4.14	2.35	-1.48	0.08745	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	2.106990	0.01968	N	0.043838	D	0.92499	0.7618	L	0.31664	0.95	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.82957	-0.0199	10	0.54805	T	0.06	.	6.9966	0.24786	0.1163:0.5055:0.3782:0.0	.	435	P05187	PPB1_HUMAN	K	435	ENSP00000375881:E435K	ENSP00000375881:E435K	E	+	1	0	ALPP	232954315	0.000000	0.05858	0.005000	0.12908	0.426000	0.31534	-3.455000	0.00465	-0.575000	0.05982	-0.834000	0.03071	GAG		0.672	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		7	30	0	0	0	1	0	7	30				
ARNT	405	broad.mit.edu	37	1	150830859	150830859	+	Missense_Mutation	SNP	C	C	T	rs201499435		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:150830859C>T	ENST00000358595.5	-	2	303	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	ARNT_ENST00000505755.1_Missense_Mutation_p.A35T|ARNT_ENST00000354396.2_Missense_Mutation_p.A35T|ARNT_ENST00000515192.1_Missense_Mutation_p.A26T	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	35					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGACAATGGCTCCTCCACCT	0.433			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(103-105)Gcc>Acc		aryl hydrocarbon receptor nuclear translocator							83.0	67.0	73.0					1																	150830859		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150830859C>T	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.103G>A	1.37:g.150830859C>T	ENSP00000351407:p.Ala35Thr					ARNT_ENST00000505755.1_Missense_Mutation_p.A35T|ARNT_ENST00000354396.2_Missense_Mutation_p.A35T|ARNT_ENST00000515192.1_Missense_Mutation_p.A26T	p.A35T	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	303	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		35					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.103G>A	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200936	0.58234	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000505755	T;T;T;T	0.05717	3.51;3.51;3.53;3.4	5.92	0.862	0.19056	.	0.498628	0.21653	N	0.071152	T	0.01870	0.0059	L	0.39467	1.215	0.24380	N	0.994796	B;B;B;B;B;B	0.11235	0.0;0.004;0.001;0.001;0.002;0.001	B;B;B;B;B;B	0.12156	0.001;0.004;0.007;0.007;0.005;0.002	T	0.42666	-0.9438	10	0.54805	T	0.06	.	8.9059	0.35523	0.0:0.6324:0.0:0.3676	.	35;35;35;26;35;35	A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;ARNT_HUMAN	T	35;35;35;26;35	ENSP00000351407:A35T;ENSP00000346372:A35T;ENSP00000423851:A26T;ENSP00000427571:A35T	ENSP00000346372:A35T	A	-	1	0	ARNT	149097483	0.996000	0.38824	0.990000	0.47175	0.996000	0.88848	0.456000	0.21859	-0.076000	0.12775	-0.140000	0.14226	GCC		0.433	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			8	42	0	0	0	1	0	8	42				
SERTAD2	9792	broad.mit.edu	37	2	64863635	64863635	+	Missense_Mutation	SNP	G	G	A	rs199521891		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:64863635G>A	ENST00000313349.3	-	2	668	c.371C>T	c.(370-372)aCg>aTg	p.T124M	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	124					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CTCCAGGGGCGTAGTGCTTCC	0.697																																						ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(370-372)aCg>aTg		SERTA domain containing 2							38.0	41.0	40.0					2																	64863635		2203	4300	6503	SO:0001583	missense	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863635G>A	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.371C>T	2.37:g.64863635G>A	ENSP00000326933:p.Thr124Met						p.T124M	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	668	-			124					Q53TS2	Missense_Mutation	SNP	ENST00000313349.3	37	c.371C>T	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927895	0.34002	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.59	5.59	0.84812	.	0.156674	0.56097	D	0.000023	T	0.46560	0.1399	L	0.48642	1.525	0.45979	D	0.998799	P	0.36144	0.539	B	0.19391	0.025	T	0.48603	-0.9021	9	0.40728	T	0.16	-10.3024	14.7609	0.69604	0.0711:0.0:0.9289:0.0	.	124	Q14140	SRTD2_HUMAN	M	124	.	ENSP00000326933:T124M	T	-	2	0	SERTAD2	64717139	1.000000	0.71417	0.926000	0.36857	0.914000	0.54420	7.222000	0.78025	2.638000	0.89438	0.655000	0.94253	ACG		0.697	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		13	67	0	0	0	1	0	13	67				
IL6R	3570	broad.mit.edu	37	1	154407115	154407115	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr1:154407115C>G	ENST00000368485.3	+	4	1016	c.579C>G	c.(577-579)tgC>tgG	p.C193W	IL6R_ENST00000344086.4_Missense_Mutation_p.C193W	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	193	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TGTCCATGTGCGTCGCCAGTA	0.527																																						ENST00000368485.3																		IL6R/ATP8B2(2)	0				breast(2)|large_intestine(1)|ovary(3)	6						c.(577-579)tgC>tgG		interleukin 6 receptor							110.0	114.0	113.0					1																	154407115		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154407115C>G	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.579C>G	1.37:g.154407115C>G	ENSP00000357470:p.Cys193Trp					IL6R_ENST00000344086.4_Missense_Mutation_p.C193W	p.C193W	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	1016	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		193					A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.579C>G	CCDS1067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.524739|2.524739	0.44969|0.44969	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000476006|ENST00000368485;ENST00000344086	.|D;D	.|0.84223	.|-1.82;-1.82	4.83|4.83	-7.57|-7.57	0.01318|0.01318	.|Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	.|414.908000	.|0.00357	.|N	.|0.000030	D|D	0.83801|0.83801	0.5333|0.5333	L|L	0.36672|0.36672	1.1|1.1	0.46478|0.46478	D|D	0.999068|0.999068	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.71388|0.71388	-0.4608|-0.4608	5|10	.|0.62326	.|D	.|0.03	-15.317|-15.317	15.4044|15.4044	0.74866|0.74866	0.0:0.2137:0.0:0.7863|0.0:0.2137:0.0:0.7863	.|.	.|193;193	.|P08887-2;P08887	.|.;IL6RA_HUMAN	G|W	116|193	.|ENSP00000357470:C193W;ENSP00000340589:C193W	.|ENSP00000340589:C193W	A|C	+|+	2|3	0|2	IL6R|IL6R	152673739|152673739	0.082000|0.082000	0.21442|0.21442	0.012000|0.012000	0.15200|0.15200	0.038000|0.038000	0.13279|0.13279	-1.313000|-1.313000	0.02718|0.02718	-1.648000|-1.648000	0.01510|0.01510	-0.768000|-0.768000	0.03414|0.03414	GCG|TGC		0.527	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		4	147	0	0	0	1	0	4	147				
ABLIM3	22885	broad.mit.edu	37	5	148619446	148619446	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr5:148619446G>A	ENST00000506113.1	+	12	1681	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	ABLIM3_ENST00000508983.1_Missense_Mutation_p.R400H|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R338H|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R338H|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R338H|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R400H|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	400					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTACTACCGCTCTGGTAAG	0.642																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1198-1200)cGc>cAc		actin binding LIM protein family, member 3							67.0	63.0	64.0					5																	148619446		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148619446G>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1199G>A	5.37:g.148619446G>A	ENSP00000425394:p.Arg400His					RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R338H|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R338H|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R400H|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R400H|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R338H|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000519549.1_3'UTR	p.R400H			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1681	+			400					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1199G>A	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107053	0.77096	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.54279	0.58;1.44;0.58;0.58;1.44;0.58	5.0	5.0	0.66597	.	0.433417	0.26816	N	0.022350	T	0.63815	0.2543	L	0.46157	1.445	0.46701	D	0.999166	D;D;P	0.89917	1.0;0.995;0.89	D;P;B	0.79784	0.993;0.674;0.159	T	0.58792	-0.7574	10	0.31617	T	0.26	.	13.4466	0.61144	0.0:0.0:0.8434:0.1566	.	338;338;400	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	H	338;338;400;400;338;400	ENSP00000315841:R338H;ENSP00000348938:R338H;ENSP00000310309:R400H;ENSP00000425394:R400H;ENSP00000421183:R338H;ENSP00000420855:R400H	ENSP00000310309:R400H	R	+	2	0	ABLIM3	148599639	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.707000	0.68370	2.598000	0.87819	0.462000	0.41574	CGC		0.642	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		18	46	0	0	0	1	0	18	46				
PRRT2	112476	broad.mit.edu	37	16	29825093	29825093	+	Nonsense_Mutation	SNP	C	C	T	rs387907126		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr16:29825093C>T	ENST00000358758.7	+	2	1001	c.718C>T	c.(718-720)Cga>Tga	p.R240*	AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000300797.6_Nonsense_Mutation_p.R240*|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000567659.1_Nonsense_Mutation_p.R240*|PAGR1_ENST00000320330.6_5'Flank|PAGR1_ENST00000609618.1_5'Flank	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	240					neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AGGATCTCCCCGAGGTAGCCT	0.637																																						ENST00000300797.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(718-720)Cga>Tga		proline-rich transmembrane protein 2							28.0	29.0	28.0					16																	29825093		2197	4300	6497	SO:0001587	stop_gained	112476				response to biotic stimulus	integral to membrane		g.chr16:29825093C>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.718C>T	16.37:g.29825093C>T	ENSP00000351608:p.Arg240*					PRRT2_ENST00000567659.1_Nonsense_Mutation_p.R240*|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Nonsense_Mutation_p.R240*|AC009133.20_ENST00000569039.1_RNA	p.R240*			Q7Z6L0	PRRT2_HUMAN			2	892	+			240					A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Nonsense_Mutation	SNP	ENST00000358758.7	37	c.718C>T	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812782	0.70912	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	.	.	.	3.9	0.477	0.16784	.	0.330305	0.28901	N	0.013777	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5191	10.3695	0.44044	0.6463:0.3537:0.0:0.0	.	.	.	.	X	240	.	ENSP00000300797:R240X	R	+	1	2	PRRT2	29732594	0.994000	0.37717	1.000000	0.80357	0.987000	0.75469	2.884000	0.48562	0.409000	0.25649	-0.309000	0.09137	CGA		0.637	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		6	25	0	0	0	1	0	6	25				
RADIL	55698	broad.mit.edu	37	7	4839057	4839057	+	Silent	SNP	G	G	A	rs200348720	byFrequency	TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:4839057G>A	ENST00000399583.3	-	15	3367	c.3180C>T	c.(3178-3180)tcC>tcT	p.S1060S	RADIL_ENST00000538469.1_Silent_p.S820S|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1060	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTTCCACGTCGGACTTCGCGA	0.647													g|||	9	0.00179712	0.0068	0.0	5008	,	,		13310	0.0		0.0	False		,,,				2504	0.0					ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3178-3180)tcC>tcT		Ras association and DIL domains		A		17,3951		0,17,1967	81.0	86.0	84.0		3180	-9.9	0.0	7		84	2,8312		0,2,4155	no	coding-synonymous	RADIL	NM_018059.4		0,19,6122	AA,AG,GG		0.0241,0.4284,0.1547		1060/1076	4839057	19,12263	1984	4157	6141	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4839057G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.3180C>T	7.37:g.4839057G>A						RADIL_ENST00000538469.1_Silent_p.S820S|RADIL_ENST00000536091.1_3'UTR	p.S1060S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	15	3367	-		Ovarian(82;0.0175)	1060			PDZ.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.3180C>T	CCDS43544.1																																																																																				0.647	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		42	51	0	0	0	1	0	42	51				
DGKI	9162	broad.mit.edu	37	7	137294342	137294342	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr7:137294342G>A	ENST00000288490.5	-	9	1007	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V	DGKI_ENST00000446122.1_Missense_Mutation_p.A336V|DGKI_ENST00000453654.2_Missense_Mutation_p.A36V|DGKI_ENST00000424189.2_Missense_Mutation_p.A336V	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	336					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCGATTTGAAGCCTTCAGGGA	0.458																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(106-108)gCt>gTt		diacylglycerol kinase, iota							129.0	109.0	116.0					7																	137294342		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137294342G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1007C>T	7.37:g.137294342G>A	ENSP00000288490:p.Ala336Val					DGKI_ENST00000424189.2_Missense_Mutation_p.A336V|DGKI_ENST00000288490.5_Missense_Mutation_p.A336V|DGKI_ENST00000446122.1_Missense_Mutation_p.A336V	p.A36V			O75912	DGKI_HUMAN			9	646	-			336					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.107C>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039235	0.35989	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.34667	1.9;1.35;1.55	5.61	5.61	0.85477	.	0.105878	0.64402	D	0.000003	T	0.16769	0.0403	N	0.03608	-0.345	0.37112	D	0.900412	B;B	0.30763	0.02;0.294	B;B	0.22386	0.016;0.039	T	0.19811	-1.0294	10	0.33940	T	0.23	.	13.1659	0.59571	0.0:0.0:0.721:0.279	.	36;336	E9PFX6;O75912	.;DGKI_HUMAN	V	36;284;336;336;336	ENSP00000392161:A36V;ENSP00000288490:A336V;ENSP00000399131:A336V	ENSP00000288490:A336V	A	-	2	0	DGKI	136944882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.068000	0.50018	2.657000	0.90304	0.655000	0.94253	GCT		0.458	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		8	46	0	0	0	1	0	8	46				
PRKD2	25865	broad.mit.edu	37	19	47197242	47197242	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:47197242G>C	ENST00000291281.4	-	10	1691	c.1466C>G	c.(1465-1467)cCa>cGa	p.P489R	PRKD2_ENST00000433867.1_Missense_Mutation_p.P489R|PRKD2_ENST00000595515.1_Missense_Mutation_p.P489R|PRKD2_ENST00000600194.1_Missense_Mutation_p.P332R|PRKD2_ENST00000601806.1_Missense_Mutation_p.P332R			Q9BZL6	KPCD2_HUMAN	protein kinase D2	489	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CTGCCCACTTGGCCCACCCGG	0.692																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1465-1467)cCa>cGa		protein kinase D2							49.0	46.0	47.0					19																	47197242		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47197242G>C	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1466C>G	19.37:g.47197242G>C	ENSP00000291281:p.Pro489Arg					PRKD2_ENST00000601806.1_Missense_Mutation_p.P332R|PRKD2_ENST00000291281.4_Missense_Mutation_p.P489R|PRKD2_ENST00000595515.1_Missense_Mutation_p.P489R|PRKD2_ENST00000600194.1_Missense_Mutation_p.P332R	p.P489R	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	11	1943	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	489			PH.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1466C>G	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681891	0.47991	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.21734	1.99;1.99	4.97	4.97	0.65823	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.521221	0.17039	N	0.189419	T	0.31857	0.0810	L	0.34521	1.04	0.58432	D	0.999999	P;P	0.37997	0.614;0.482	P;B	0.52758	0.708;0.414	T	0.02491	-1.1151	10	0.36615	T	0.2	-22.9989	16.1632	0.81732	0.0:0.0:1.0:0.0	.	489;489	E7ER94;Q9BZL6	.;KPCD2_HUMAN	R	489	ENSP00000291281:P489R;ENSP00000393978:P489R	ENSP00000291281:P489R	P	-	2	0	PRKD2	51889082	0.555000	0.26530	0.522000	0.27862	0.773000	0.43773	3.169000	0.50809	2.482000	0.83794	0.555000	0.69702	CCA		0.692	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		13	69	0	0	0	1	0	13	69				
MED12L	116931	broad.mit.edu	37	3	150908513	150908513	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:150908513A>G	ENST00000474524.1	+	13	1801	c.1763A>G	c.(1762-1764)aAc>aGc	p.N588S	RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Missense_Mutation_p.N448S|MED12L_ENST00000309237.4_Missense_Mutation_p.N588S|MED12L_ENST00000422248.2_Missense_Mutation_p.N588S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	588						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCGGACCCAAACAGTGAATGT	0.403																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1762-1764)aAc>aGc		mediator complex subunit 12-like							88.0	81.0	83.0					3																	150908513		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150908513A>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1763A>G	3.37:g.150908513A>G	ENSP00000417235:p.Asn588Ser					MED12L_ENST00000273432.4_Missense_Mutation_p.N448S|MED12L_ENST00000309237.4_Missense_Mutation_p.N588S|MED12L_ENST00000422248.2_Missense_Mutation_p.N588S	p.N588S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		13	1801	+			588					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1763A>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	9.846	1.192311	0.21954	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.48	4.33	0.51752	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.114937	0.64402	D	0.000009	T	0.34948	0.0915	N	0.20881	0.62	0.35362	D	0.788347	B;B;B;D	0.61697	0.041;0.004;0.025;0.99	B;B;B;D	0.72982	0.054;0.008;0.015;0.979	T	0.41574	-0.9501	10	0.31617	T	0.26	-17.8511	7.2114	0.25935	0.7791:0.1462:0.0748:0.0	.	448;588;588;588	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	S	588;588;588;448	ENSP00000403308:N588S;ENSP00000310760:N588S;ENSP00000417235:N588S;ENSP00000273432:N448S	ENSP00000273432:N448S	N	+	2	0	MED12L	152391203	1.000000	0.71417	0.982000	0.44146	0.899000	0.52679	3.512000	0.53407	1.024000	0.39682	0.482000	0.46254	AAC		0.403	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		23	27	0	0	0	1	0	23	27				
ZNF599	148103	broad.mit.edu	37	19	35251299	35251299	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:35251299C>A	ENST00000329285.8	-	4	780	c.407G>T	c.(406-408)aGg>aTg	p.R136M		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	136					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(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	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)			TGTTCCTGGCCTCAAGTTCCC	0.443																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(406-408)aGg>aTg		zinc finger protein 599							126.0	134.0	132.0					19																	35251299		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251299C>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.407G>T	19.37:g.35251299C>A	ENSP00000333802:p.Arg136Met						p.R136M	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	780	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		136					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.407G>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675059	0.47781	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.26223	1.75	2.57	2.57	0.30868	.	.	.	.	.	T	0.29223	0.0727	L	0.38175	1.15	0.53688	D	0.999977	D	0.69078	0.997	P	0.56042	0.79	T	0.03945	-1.0990	9	0.59425	D	0.04	.	7.4787	0.27391	0.0:0.7299:0.2701:0.0	.	136	Q96NL3	ZN599_HUMAN	M	135;136	ENSP00000333802:R136M	ENSP00000333802:R136M	R	-	2	0	ZNF599	39943139	0.000000	0.05858	0.280000	0.24747	0.912000	0.54170	-0.107000	0.10873	1.759000	0.51996	0.491000	0.48974	AGG		0.443	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		31	148	1	0	2.48696e-23	1	2.84914e-23	31	148				
ZNF649	65251	broad.mit.edu	37	19	52394714	52394714	+	Silent	SNP	C	C	T			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr19:52394714C>T	ENST00000354957.3	-	5	959	c.675G>A	c.(673-675)gaG>gaA	p.E225E	ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTGAGCTCTCTCGTGTTCAG	0.498																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(673-675)gaG>gaA		zinc finger protein 649							115.0	112.0	113.0					19																	52394714		2203	4300	6503	SO:0001819	synonymous_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394714C>T	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.675G>A	19.37:g.52394714C>T						ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	p.E225E	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	959	-		all_neural(266;0.0602)	225					A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	ENST00000354957.3	37	c.675G>A	CCDS12843.1																																																																																				0.498	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		19	123	0	0	0	1	0	19	123				
ANKRD36BP2	645784	broad.mit.edu	37	2	89100588	89100588	+	RNA	DEL	A	A	-			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:89100588delA	ENST00000393525.3	+	0	1089									ankyrin repeat domain 36B pseudogene 2																		TTTGTCAACTAAAAAAACAAA	0.343																																						ENST00000393525.3																			0																																																			645784							g.chr2:89100588delA			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100588delA														0	1089	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.343	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			20	70						20	70	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89104896	89104896	+	RNA	DEL	C	C	-	rs5832744		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:89104896delC	ENST00000393525.3	+	0	4872									ankyrin repeat domain 36B pseudogene 2																		ATTTCAGATGCCACAGGTGTT	0.313																																						ENST00000393525.3																			0																																																			645784							g.chr2:89104896delC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89104896delC														0	4872	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.313	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			2	4						2	4	---	---	---	---
RBM43	375287	broad.mit.edu	37	2	152108088	152108088	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr2:152108088delT	ENST00000331426.5	-	4	557	c.406delA	c.(406-408)atcfs	p.I136fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I136fs*4(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTCGGGATTTTTTTTTTC	0.388																																						ENST00000331426.5																			1	Deletion - Frameshift(1)	p.I136fs*4(1)	ovary(1)	endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(406-408)tcfs		RNA binding motif protein 43				67,49,4116		3,1,60,6,36,2010	81.0	90.0	87.0			4.3	0.8	2	dbSNP_134	89	115,71,8038		0,1,114,8,54,3935	no	codingComplex	RBM43	NM_198557.2		3,2,174,14,90,5945	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2617,2.741,2.4245			152108088	182,120,12154	2198	4292	6490	SO:0001589	frameshift_variant	375287						nucleotide binding|RNA binding	g.chr2:152108088delT	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.406delA	2.37:g.152108088delT	ENSP00000331211:p.Ile136fs						p.I136fs	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	557	-			136					B2RMT5	Frame_Shift_Del	DEL	ENST00000331426.5	37	c.406delA	CCDS2191.1																																																																																				0.388	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		8	199						8	199	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	TT	rs55992531|rs397933710		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr3:195400918_195400919insTT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400918_195400919insTT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400925_195400926dupTT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	10						7	10	---	---	---	---
NOL7	51406	broad.mit.edu	37	6	13615668	13615670	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr6:13615668_13615670delGGA	ENST00000451315.2	+	1	110_112	c.78_80delGGA	c.(76-81)tcggag>tcg	p.E30del	RP1-223E5.4_ENST00000566170.1_RNA	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	30						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			AGCTGGCCTCGGAGGAGGAGGAG	0.729											OREG0017200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451315.2																			0				breast(1)|large_intestine(3)|lung(1)	5						c.(76-81)tcg>tc		nucleolar protein 7, 27kDa				9,3523		0,9,1757						3.0	1.0			3	19,6973		5,9,3482	no	coding	NOL7	NM_016167.3		5,18,5239	A1A1,A1R,RR		0.2717,0.2548,0.2661				28,10496				SO:0001651	inframe_deletion	51406					mitochondrion|nucleolus		g.chr6:13615668_13615670delGGA	AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.78_80delGGA	6.37:g.13615677_13615679delGGA	ENSP00000405674:p.Glu30del		OREG0017200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.SE26del	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	Epithelial(50;0.176)		1	110_112	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	26					Q5T297|Q9Y3U7	In_Frame_Del	DEL	ENST00000451315.2	37	c.78_80delGGA	CCDS4528.1																																																																																				0.729	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	NM_016167		2	4						2	4	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			399881							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		5	6						5	6	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71724848	71724849	+	In_Frame_Ins	INS	-	-	CCT			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:71724848_71724849insCCT	ENST00000393695.3	-	15	4031_4032	c.3700_3701insAGG	c.(3700-3702)gtg>gAGGtg	p.1233_1234insE	NUMA1_ENST00000358965.6_In_Frame_Ins_p.1233_1234insE|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CAGGATGGACACCTCCTCCTCC	0.599			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3700-3702)gtc>AGGgtc		nuclear mitotic apparatus protein 1																																				SO:0001652	inframe_insertion	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724848_71724849insCCT	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3698_3700dupAGG	11.37:g.71724855_71724857dupCCT	ENSP00000377298:p.Glu1233_Glu1233dup					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_In_Frame_Ins_p.1233_1234insR	p.1233_1234insR	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	4031_4032	-			1233						In_Frame_Ins	INS	ENST00000393695.3	37	c.3700_3701insAGG	CCDS31633.1																																																																																				0.599	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			23	116						23	116	---	---	---	---
JRKL	8690	broad.mit.edu	37	11	96124135	96124137	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr11:96124135_96124137delTTC	ENST00000332349.4	+	2	569_571	c.322_324delTTC	c.(322-324)ttcdel	p.F110del	JRKL_ENST00000458427.1_In_Frame_Del_p.F110del|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	110	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		AAGGGCAGAGTTCTTCTTTTATG	0.438																																						ENST00000458427.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11						c.(322-324)del		jerky homolog-like (mouse)																																				SO:0001651	inframe_deletion	8690				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:96124135_96124137delTTC	AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.322_324delTTC	11.37:g.96124138_96124140delTTC	ENSP00000333350:p.Phe110del					JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_In_Frame_Del_p.F110del	p.F110del	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.148)	1	978_980	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	110			HTH CENPB-type.		A8K3G4|B2RAJ3|Q32MC2	In_Frame_Del	DEL	ENST00000332349.4	37	c.322_324delTTC	CCDS8308.1																																																																																				0.438	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772		90	93						90	93	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104121051	104121061	+	Frame_Shift_Del	DEL	TTCGTGAAAGA	TTCGTGAAAGA	-	rs142064323		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr12:104121051_104121061delTTCGTGAAAGA	ENST00000388887.2	+	47	5062_5072	c.4858_4868delTTCGTGAAAGA	c.(4858-4869)ttcgtgaaagatfs	p.FVKD1620fs		NM_017564.9	NP_060034.9			stabilin 2									p.F1620F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACAGGAGCATTTCGTGAAAGATCTGGTCGGC	0.521																																						ENST00000388887.2																			1	Substitution - coding silent(1)	p.F1620F(1)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4858-4869)tfs		stabilin 2																																				SO:0001589	frameshift_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104121051_104121061delTTCGTGAAAGA	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4858_4868delTTCGTGAAAGA	12.37:g.104121051_104121061delTTCGTGAAAGA	ENSP00000373539:p.Phe1620fs						p.FVKD1620fs	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			47	5062_5072	+			1620			FAS1 5.			Frame_Shift_Del	DEL	ENST00000388887.2	37	c.4858_4868delTTCGTGAAAGA	CCDS31888.1																																																																																				0.521	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			24	171						24	171	---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	112036754	112036756	+	In_Frame_Del	DEL	GCT	GCT	-	rs200089873|rs10560189|rs67658094	byFrequency	TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr12:112036754_112036756delGCT	ENST00000377617.3	-	1	724_726	c.563_565delAGC	c.(562-567)cagccg>ccg	p.Q188del	ATXN2_ENST00000608853.1_In_Frame_Del_p.Q28del|ATXN2_ENST00000550104.1_In_Frame_Del_p.Q188del|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000542287.2_Intron|RP11-686G8.2_ENST00000547021.1_RNA|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000549455.1_5'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	188				Missing (in Ref. 1; AAB19200 and 5; CAA69589). {ECO:0000305}.	cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCGGGCGGCGgctgctgctgctg	0.709														4763	0.951078	0.8729	0.9438	5008	,	,		4679	1.0		0.9682	False		,,,				2504	0.9939					ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(562-567)ccg>c		ataxin 2				330,50		162,6,22						-6.2	0.3		dbSNP_119	1	1419,127		701,17,55	no	coding	ATXN2	NM_002973.3		863,23,77	A1A1,A1R,RR		8.2147,13.1579,9.19				1749,177				SO:0001651	inframe_deletion	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:112036754_112036756delGCT	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.563_565delAGC	12.37:g.112036763_112036765delGCT	ENSP00000366843:p.Gln188del					ATXN2_ENST00000550104.1_In_Frame_Del_p.QP188del|ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000549455.1_5'UTR	p.QP188del	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			1	724_726	-			188	Missing (in Ref. 1; AAB19200 and 5; CAA69589).				A6NLD4|Q6ZQZ7|Q99493	In_Frame_Del	DEL	ENST00000377617.3	37	c.563_565delAGC	CCDS31902.1																																																																																				0.709	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		3	3						3	3	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100623843	100623844	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr13:100623843_100623844insA	ENST00000267294.4	-	1	319_320	c.86_87insT	c.(85-87)ttgfs	p.L29fs		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	29					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCTCTTGCTCAAAGGGGGCTC	0.584																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(85-87)tagfs		Zic family member 5																																				SO:0001589	frameshift_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100623843_100623844insA	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.87dupT	13.37:g.100623846_100623846dupA	ENSP00000267294:p.Leu29fs						p.*29fs	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	319_320	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		29					Q5VYB0	Frame_Shift_Ins	INS	ENST00000267294.4	37	c.86_87insT	CCDS9494.2																																																																																				0.584	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		2	4						2	4	---	---	---	---
KRTAP2-4	85294	broad.mit.edu	37	17	39221759	39221773	+	In_Frame_Del	DEL	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	-	rs368479035|rs200935003|rs200113657|rs532535358|rs349782	byFrequency	TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	ENST00000394015.2	-	1	358_372	c.325_339delTGCCGGCCCCCCTGC	c.(325-339)tgccggcccccctgcdel	p.CRPPC109del		NM_033184.3	NP_149440.1	Q9BYR9	KRA24_HUMAN	keratin associated protein 2-4	109	10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].					keratin filament (GO:0045095)				skin(1)	1		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	STAD - Stomach adenocarcinoma(17;0.000371)			TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC	0.66														90	0.0179712	0.0038	0.0202	5008	,	,		17196	0.0308		0.0288	False		,,,				2504	0.0112					ENST00000394015.2																			0				skin(1)	1						c.(325-339)del		keratin associated protein 2-4				32,2788		10,12,1388						4.5	1.0			17	146,5894		14,118,2888	no	coding	KRTAP2-4	NM_033184.3		24,130,4276	A1A1,A1R,RR		2.4172,1.1348,2.009				178,8682				SO:0001651	inframe_deletion	85294					keratin filament		g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	AJ406930		17q21.2	2012-04-19			ENSG00000213417	ENSG00000213417		"""Keratin associated proteins"""	18891	protein-coding gene	gene with protein product						11279113	Standard	NM_033184		Approved	KAP2.4	uc002hvy.3	Q9BYR9	OTTHUMG00000133594	ENST00000394015.2:c.325_339delTGCCGGCCCCCCTGC	17.37:g.39221759_39221773delGCAGGGGGGCCGGCA	ENSP00000377583:p.Cys109_Cys113del						p.CRPPC109del	NM_033184.3	NP_149440.1	Q9BYR9	KRA24_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	358_372	-		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	109			10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].		Q495J2	In_Frame_Del	DEL	ENST00000394015.2	37	c.325_339delTGCCGGCCCCCCTGC	CCDS32648.1																																																																																				0.660	KRTAP2-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257698.1	NM_033184		2	4						2	4	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73495357	73495363	+	Frame_Shift_Del	DEL	ACCAGAA	ACCAGAA	-			TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr17:73495357_73495363delACCAGAA	ENST00000314256.7	+	32	4407_4413	c.4013_4019delACCAGAA	c.(4012-4020)taccagaagfs	p.YQK1338fs	KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.YQK1348fs|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.YQK989fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1338						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGAGTCCGCTACCAGAAGCGACAGAAG	0.589																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(4012-4020)tgfs		KIAA0195																																				SO:0001589	frameshift_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73495357_73495363delACCAGAA		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.4013_4019delACCAGAA	17.37:g.73495357_73495363delACCAGAA	ENSP00000313885:p.Tyr1338fs					KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.YQK1348fs|KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.YQK989fs	p.YQK1338fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		32	4407_4413	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1338					O75536|Q86XF1	Frame_Shift_Del	DEL	ENST00000314256.7	37	c.4013_4019delACCAGAA	CCDS32732.1																																																																																				0.589	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		69	31						69	31	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1369-1374)gcagfs		formin homology 2 domain containing 3																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs	p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1493_1494	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1371_1372delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		9	104						9	104	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11049306	11049307	+	RNA	INS	-	-	T	rs57143135		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr21:11049306_11049307insT	ENST00000470054.1	-	0	659							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATATCCAGTAATTTTTTTAAGT	0.272																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11049306_11049307insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049313_11049313dupT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	659	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.272	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	73						9	73	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11078137	11078137	+	RNA	DEL	C	C	-	rs111912474		TCGA-BA-A8YP-01A-11D-A391-08	TCGA-BA-A8YP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14a230ed-5c57-4643-97d4-6218859e62a4	ff13e32c-b2fc-48cd-b2b4-59ea039b7a84	g.chr21:11078137delC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caaaaattagccaggcgtggt	0.547																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11078137delC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11078137delC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.547	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	6						3	6	---	---	---	---
