#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
FAM83G	644815	broad.mit.edu	37	17	18881175	18881175	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:18881175G>A	ENST00000388995.6	-	5	2027	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R602C|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R602C			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	602					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCAGGGCCACGGCCGGAGCTG	0.637																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1804-1806)Cgt>Tgt		family with sequence similarity 83, member G							36.0	42.0	40.0					17																	18881175		2025	4163	6188	SO:0001583	missense	644815							g.chr17:18881175G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1804C>T	17.37:g.18881175G>A	ENSP00000373647:p.Arg602Cys					FAM83G_ENST00000345041.4_Missense_Mutation_p.R602C|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R602C|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron	p.R602C			A6ND36	FA83G_HUMAN			5	2027	-			602					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1804C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770664	0.31320	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12255	2.7;2.7	5.91	2.47	0.30058	.	1.797520	0.02785	N	0.121428	T	0.11879	0.0289	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.26395	-1.0104	10	0.56958	D	0.05	2.8532	7.4688	0.27336	0.0845:0.0:0.6081:0.3075	.	602	A6ND36	FA83G_HUMAN	C	602	ENSP00000373647:R602C;ENSP00000343279:R602C	ENSP00000343279:R602C	R	-	1	0	FAM83G	18821900	0.405000	0.25336	0.171000	0.22900	0.902000	0.53008	0.702000	0.25631	0.812000	0.34326	0.655000	0.94253	CGT		0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			20	150	0	0	0	1	0	20	150				
SDHA	6389	broad.mit.edu	37	5	236619	236619	+	Missense_Mutation	SNP	T	T	C	rs201741295	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr5:236619T>C	ENST00000264932.6	+	10	1452	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	SDHA_ENST00000504309.1_Missense_Mutation_p.V446A|SDHA_ENST00000510361.1_Missense_Mutation_p.V398A	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	446					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGTGCCTCGGTACATGGTGCC	0.602									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1336-1338)gTa>gCa		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						75.0	69.0	71.0					5																	236619		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:236619T>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1337T>C	5.37:g.236619T>C	ENSP00000264932:p.Val446Ala					SDHA_ENST00000504309.1_Missense_Mutation_p.V446A|SDHA_ENST00000510361.1_Missense_Mutation_p.V398A	p.V446A	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		10	1452	+			446					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1337T>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.46	3.628443	0.67015	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.72835	-0.69;-0.69;-0.69	5.01	5.01	0.66863	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.079100	0.50627	U	0.000109	D	0.85737	0.5766	M	0.89904	3.07	0.80722	D	1	P;D;D;P;D	0.76494	0.828;0.979;0.999;0.952;0.99	P;D;D;P;D	0.72982	0.654;0.936;0.979;0.863;0.909	D	0.88385	0.3004	10	0.66056	D	0.02	.	12.9547	0.58421	0.0:0.0:0.0:1.0	.	398;446;40;446;446	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	A	446;301;446;398	ENSP00000264932:V446A;ENSP00000426514:V446A;ENSP00000427703:V398A	ENSP00000264932:V446A	V	+	2	0	SDHA	289619	1.000000	0.71417	0.973000	0.42090	0.144000	0.21451	5.998000	0.70653	2.009000	0.58944	0.528000	0.53228	GTA		0.602	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	146	0	0	0	1	0	5	146				
HDAC4	9759	broad.mit.edu	37	2	240005917	240005917	+	Silent	SNP	G	G	A	rs149230665		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:240005917G>A	ENST00000345617.3	-	20	3242	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	AC017028.8_ENST00000582701.1_RNA|MIR4441_ENST00000582623.1_RNA|HDAC4_ENST00000543185.1_Silent_p.S401S|AC017028.7_ENST00000579869.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	817	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCACGGCCACGGAGTTGAAGT	0.632																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2449-2451)tcC>tcT		histone deacetylase 4		G		1,4405	2.1+/-5.4	0,1,2202	45.0	39.0	41.0		2451	-4.7	0.9	2	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HDAC4	NM_006037.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		817/1085	240005917	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240005917G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2451C>T	2.37:g.240005917G>A						HDAC4_ENST00000543185.1_Silent_p.S401S	p.S817S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	20	3242	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	817			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2451C>T	CCDS2529.1																																																																																				0.632	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		3	35	0	0	0	1	0	3	35				
SRPR	6734	broad.mit.edu	37	11	126135974	126135974	+	Missense_Mutation	SNP	G	G	A	rs138456100	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr11:126135974G>A	ENST00000332118.6	-	8	1089	c.935C>T	c.(934-936)gCg>gTg	p.A312V	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.A284V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	312					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCCCTTGGTCGCACTGCAGGG	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22112	0.0		0.0	False		,,,				2504	0.0					ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(934-936)gCg>gTg		signal recognition particle receptor (docking protein)		G	VAL/ALA,VAL/ALA	10,4392	16.8+/-37.8	0,10,2191	163.0	157.0	159.0		851,935	5.2	1.0	11	dbSNP_134	159	0,8598		0,0,4299	yes	missense,missense	SRPR	NM_001177842.1,NM_003139.3	64,64	0,10,6490	AA,AG,GG		0.0,0.2272,0.0769	benign,benign	284/611,312/639	126135974	10,12990	2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126135974G>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.935C>T	11.37:g.126135974G>A	ENSP00000328023:p.Ala312Val					SRPR_ENST00000532259.1_Missense_Mutation_p.A284V	p.A312V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	8	1089	-	all_hematologic(175;0.145)		312					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.935C>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900739	0.33535	0.002272	0.0	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.25	5.25	0.73442	Signal recognition particle, SRP54 subunit, helical bundle (1);	0.461581	0.26432	N	0.024412	T	0.44973	0.1319	L	0.36672	1.1	0.45962	D	0.99878	B;B	0.30526	0.283;0.024	B;B	0.17979	0.02;0.004	T	0.34527	-0.9825	9	0.29301	T	0.29	-1.9048	14.2816	0.66216	0.0732:0.0:0.9268:0.0	.	284;312	E9PJS4;P08240	.;SRPR_HUMAN	V	312;284	.	ENSP00000328023:A312V	A	-	2	0	SRPR	125641184	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	6.196000	0.72094	2.738000	0.93877	0.655000	0.94253	GCG		0.478	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		5	383	0	0	0	1	0	5	383				
PTK2	5747	broad.mit.edu	37	8	141762391	141762391	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr8:141762391T>C	ENST00000522684.1	-	17	1586	c.1357A>G	c.(1357-1359)Att>Gtt	p.I453V	PTK2_ENST00000519465.1_Missense_Mutation_p.I81V|PTK2_ENST00000520151.1_Missense_Mutation_p.I81V|PTK2_ENST00000340930.3_Missense_Mutation_p.I453V|PTK2_ENST00000519419.1_Missense_Mutation_p.I497V|PTK2_ENST00000535192.1_Missense_Mutation_p.I453V|PTK2_ENST00000538769.1_Missense_Mutation_p.I121V|PTK2_ENST00000517887.1_Missense_Mutation_p.I497V|PTK2_ENST00000395218.2_Missense_Mutation_p.I453V|PTK2_ENST00000521059.1_Missense_Mutation_p.I453V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CATGTTTTAATTGCAACCGCC	0.368																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1357-1359)Att>Gtt		protein tyrosine kinase 2							72.0	73.0	73.0					8																	141762391		2202	4300	6502	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141762391T>C	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1357A>G	8.37:g.141762391T>C	ENSP00000429911:p.Ile453Val					PTK2_ENST00000340930.3_Missense_Mutation_p.I453V|PTK2_ENST00000519465.1_Missense_Mutation_p.I81V|PTK2_ENST00000520151.1_Missense_Mutation_p.I81V|PTK2_ENST00000535192.1_Missense_Mutation_p.I453V|PTK2_ENST00000517887.1_Missense_Mutation_p.I497V|PTK2_ENST00000519419.1_Missense_Mutation_p.I497V|PTK2_ENST00000395218.2_Missense_Mutation_p.I453V|PTK2_ENST00000538769.1_Missense_Mutation_p.I121V|PTK2_ENST00000521059.1_Missense_Mutation_p.I453V	p.I453V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		17	1586	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	453			Protein kinase.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1357A>G	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.167|5.167	0.216429|0.216429	0.09810|0.09810	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207;ENST00000519024|ENST00000519654	T;T;T;T;T;T;T;T;T;T;T;T|.	0.78481|.	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.055617|.	0.64402|.	D|.	0.000001|.	T|T	0.37348|0.37348	0.1000|0.1000	N|N	0.04636|0.04636	-0.2|-0.2	0.49798|0.49798	D|D	0.999829|0.999829	B;B;B;B;B;B;B;B;B|.	0.14438|.	0.005;0.005;0.01;0.004;0.005;0.002;0.01;0.0;0.0|.	B;B;B;B;B;B;B;B;B|.	0.23150|.	0.023;0.044;0.02;0.011;0.044;0.01;0.02;0.007;0.004|.	T|T	0.35375|0.35375	-0.9791|-0.9791	10|5	0.07644|.	T|.	0.81|.	.|.	16.1444|16.1444	0.81555|0.81555	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	453;148;373;453;475;453;405;121;81|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.|.	V|S	453;453;81;497;453;405;453;374;148;125;453;121;497;151;271;88|463	ENSP00000429911:I453V;ENSP00000438009:I453V;ENSP00000429170:I81V;ENSP00000429082:I497V;ENSP00000429474:I453V;ENSP00000378644:I453V;ENSP00000428492:I125V;ENSP00000341189:I453V;ENSP00000445742:I121V;ENSP00000429129:I497V;ENSP00000430603:I151V;ENSP00000428232:I88V|.	ENSP00000341189:I453V|.	I|N	-|-	1|2	0|0	PTK2|PTK2	141831573|141831573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.372000|2.372000	0.44257|0.44257	2.223000|2.223000	0.72356|0.72356	0.455000|0.455000	0.32223|0.32223	ATT|AAT		0.368	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		4	161	0	0	0	1	0	4	161				
FRMPD2	143162	broad.mit.edu	37	10	49440276	49440276	+	Silent	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:49440276G>A	ENST00000374201.3	-	10	1352	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	FRMPD2_ENST00000305531.3_Silent_p.N326N|FRMPD2_ENST00000407470.4_Silent_p.N319N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	350	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGTGCTGCCCGTTCAGCAGGA	0.443																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(1048-1050)aaC>aaT		FERM and PDZ domain containing 2							101.0	93.0	95.0					10																	49440276		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49440276G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1050C>T	10.37:g.49440276G>A						FRMPD2_ENST00000305531.3_Silent_p.N326N|FRMPD2_ENST00000407470.4_Silent_p.N319N	p.N350N	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	10	1352	-			350			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.1050C>T	CCDS31195.1																																																																																				0.443	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		4	134	0	0	0	1	0	4	134				
FREM2	341640	broad.mit.edu	37	13	39263907	39263907	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr13:39263907G>A	ENST00000280481.7	+	1	2642	c.2426G>A	c.(2425-2427)cGa>cAa	p.R809Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	809					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGGAAGACCGAGCTGGGAAT	0.542																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2425-2427)cGa>cAa		FRAS1 related extracellular matrix protein 2							74.0	76.0	76.0					13																	39263907		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263907G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2426G>A	13.37:g.39263907G>A	ENSP00000280481:p.Arg809Gln						p.R809Q	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2642	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	809					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2426G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	9.517	1.107400	0.20714	.	.	ENSG00000150893	ENST00000280481	T	0.41400	1.0	5.8	-0.194	0.13240	.	1.080580	0.07083	N	0.837300	T	0.16727	0.0402	N	0.02985	-0.445	0.21499	N	0.999662	B	0.02656	0.0	B	0.04013	0.001	T	0.26018	-1.0115	10	0.10902	T	0.67	.	6.7617	0.23544	0.3619:0.3511:0.2871:0.0	.	809	Q5SZK8	FREM2_HUMAN	Q	809	ENSP00000280481:R809Q	ENSP00000280481:R809Q	R	+	2	0	FREM2	38161907	0.002000	0.14202	0.982000	0.44146	0.995000	0.86356	0.312000	0.19397	-0.016000	0.14127	0.655000	0.94253	CGA		0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		14	123	0	0	0	1	0	14	123				
NEK8	284086	broad.mit.edu	37	17	27061088	27061088	+	Silent	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:27061088G>A	ENST00000268766.6	+	2	169	c.135G>A	c.(133-135)cgG>cgA	p.R45R	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGGAAGAGCGGCAGGCAGCCC	0.527																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(133-135)cgG>cgA		NIMA-related kinase 8							109.0	97.0	101.0					17																	27061088		2203	4300	6503	SO:0001819	synonymous_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061088G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.135G>A	17.37:g.27061088G>A						NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	p.R45R	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			2	169	+	Lung NSC(42;0.0158)		45			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	c.135G>A	CCDS32597.1																																																																																				0.527	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			10	127	0	0	0	1	0	10	127				
SPATA31A6	389730	broad.mit.edu	37	9	43627785	43627785	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr9:43627785G>T	ENST00000332857.6	-	4	930	c.902C>A	c.(901-903)cCt>cAt	p.P301H	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	301					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCGGGAAAGAGGATCTTGCTG	0.547																																						ENST00000332857.6																			0											c.(901-903)cCt>cAt		SPATA31 subfamily A, member 6							3.0	3.0	3.0					9																	43627785		555	1419	1974	SO:0001583	missense	389730							g.chr9:43627785G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.902C>A	9.37:g.43627785G>T	ENSP00000329825:p.Pro301His					SPATA31A6_ENST00000496386.1_5'UTR	p.P301H	NM_001145196.1	NP_001138668.1					4	930	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.902C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.100181	0.00360	.	.	ENSG00000185775	ENST00000332857	T	0.03272	3.99	1.85	1.85	0.25348	.	1.257310	0.05490	N	0.556480	T	0.01353	0.0044	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46345	-0.9198	10	0.14252	T	0.57	-0.9104	4.8878	0.13712	0.0:0.0:0.323:0.677	.	301	Q5VVP1	F75A6_HUMAN	H	301	ENSP00000329825:P301H	ENSP00000329825:P301H	P	-	2	0	FAM75A6	43567781	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-0.173000	0.09854	0.179000	0.19938	-0.930000	0.02707	CCT		0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	951	1	0	0.000157383	1	0.000162152	6	951				
PSME1	5720	broad.mit.edu	37	14	24606754	24606754	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr14:24606754A>C	ENST00000206451.6	+	5	377	c.272A>C	c.(271-273)aAg>aCg	p.K91T	PSME1_ENST00000561435.1_Missense_Mutation_p.K91T|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000382708.3_Missense_Mutation_p.K91T|RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000470718.1_3'UTR	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	91					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 activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GAAAAGAAGAAGGGGGAGGAT	0.488																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(271-273)aAg>aCg		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)							80.0	93.0	89.0					14																	24606754		2203	4300	6503	SO:0001583	missense	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24606754A>C		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.272A>C	14.37:g.24606754A>C	ENSP00000206451:p.Lys91Thr					PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000206451.6_Missense_Mutation_p.K91T|PSME1_ENST00000561435.1_Missense_Mutation_p.K91T	p.K91T	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	5	335	+			91					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Missense_Mutation	SNP	ENST00000206451.6	37	c.272A>C	CCDS9612.1	.	.	.	.	.	.	.	.	.	.	a	16.03	3.005973	0.54361	.	.	ENSG00000092010	ENST00000206451;ENST00000382708	T;T	0.33438	1.84;1.41	4.91	3.75	0.43078	.	1.382090	0.04242	N	0.337135	T	0.25232	0.0613	N	0.08118	0	0.32184	N	0.58003	P;D	0.53151	0.956;0.958	P;P	0.50082	0.63;0.558	T	0.20075	-1.0286	10	0.15066	T	0.55	0.4503	10.0465	0.42190	0.8302:0.1698:0.0:0.0	.	91;91	A6NJG9;Q06323	.;PSME1_HUMAN	T	91	ENSP00000206451:K91T;ENSP00000372155:K91T	ENSP00000206451:K91T	K	+	2	0	PSME1	23676594	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.376000	0.73141	0.891000	0.36235	0.460000	0.39030	AAG		0.488	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		17	101	0	0	0	1	0	17	101				
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A	rs577654275	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		18962	0.0		0.0	False		,,,				2504	0.0031					ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(15208-15210)Cgg>Tgg		HYDIN, axonemal central pair apparatus protein							159.0	164.0	162.0					16																	70841641		2057	4196	6253	SO:0001583	missense	54768							g.chr16:70841641G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15208C>T	16.37:g.70841641G>A	ENSP00000377197:p.Arg5070Trp						p.R5070W	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15358	-		Ovarian(137;0.0654)	5070					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.15208C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104288	0.56291	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	6.16	4.18	0.49190	.	0.373546	0.14700	U	0.303581	T	0.05640	0.0148	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.10337	-1.0634	10	0.72032	D	0.01	.	15.109	0.72340	0.0:0.0:0.7129:0.2871	.	5069	F8WD23	.	W	5070;5069	ENSP00000377197:R5070W	ENSP00000313052:R5069W	R	-	1	2	HYDIN	69399142	0.632000	0.27172	0.923000	0.36655	0.267000	0.26476	2.233000	0.43027	0.879000	0.35944	0.650000	0.86243	CGG		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	219	0	0	0	1	0	4	219				
TRAIP	10293	broad.mit.edu	37	3	49869465	49869465	+	Silent	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:49869465C>T	ENST00000331456.2	-	11	1034	c.921G>A	c.(919-921)cgG>cgA	p.R307R	TRAIP_ENST00000469027.1_Silent_p.R152R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	307	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R307R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAAGGATGGCCGGCGGAGCT	0.547																																						ENST00000331456.2																			2	Substitution - coding silent(2)	p.R307R(2)	lung(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(919-921)cgG>cgA		TRAF interacting protein							78.0	81.0	80.0					3																	49869465		2203	4300	6503	SO:0001819	synonymous_variant	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49869465C>T	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.921G>A	3.37:g.49869465C>T						TRAIP_ENST00000469027.1_Silent_p.R152R	p.R307R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1034	-			307			Interaction with CYLD.		B5BU84|B5BUL3|O00467	Silent	SNP	ENST00000331456.2	37	c.921G>A	CCDS2806.1																																																																																				0.547	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		17	110	0	0	0	1	0	17	110				
CASKIN1	57524	broad.mit.edu	37	16	2236990	2236990	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:2236990C>A	ENST00000343516.6	-	9	1011	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	307	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GTGATGATGTCCCCTGCCTTC	0.652																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(919-921)Gac>Tac		CASK interacting protein 1							68.0	72.0	71.0					16																	2236990		2026	4174	6200	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2236990C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.919G>T	16.37:g.2236990C>A	ENSP00000345436:p.Asp307Tyr						p.D307Y	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			9	1011	-			307			SH3.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.919G>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011458	0.54468	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.18657	2.2	4.81	4.81	0.61882	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.60843	0.2300	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75082	-0.3443	9	0.87932	D	0	-35.0165	16.5975	0.84800	0.0:1.0:0.0:0.0	.	307	Q8WXD9	CSKI1_HUMAN	Y	307;136	ENSP00000345436:D307Y	ENSP00000345436:D307Y	D	-	1	0	CASKIN1	2176991	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	7.560000	0.82277	2.496000	0.84212	0.563000	0.77884	GAC		0.652	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		13	144	1	0	0.00185496	1	0.00188264	13	144				
PLEKHG5	57449	broad.mit.edu	37	1	6530295	6530295	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr1:6530295C>T	ENST00000400915.3	-	17	2035		c.e17+1		PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000377748.1_Splice_Site	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5						apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGAATCACCTTGCTGTCC	0.662																																						ENST00000377748.1																			0				liver(1)	1						c.e17+1		pleckstrin homology domain containing, family G (with RhoGef domain) member 5							94.0	82.0	86.0					1																	6530295		2203	4300	6503	SO:0001630	splice_region_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6530295C>T	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1968+1G>A	1.37:g.6530295C>T						PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000340850.5_Splice_Site		NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	17	2529	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)						B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Splice_Site	SNP	ENST00000400915.3	37		CCDS41241.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242272	0.39598	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	.	.	.	5.54	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5108	0.44860	0.0:0.9101:0.0:0.0899	.	.	.	.	.	-1	.	.	.	-	.	.	PLEKHG5	6452882	1.000000	0.71417	0.993000	0.49108	0.457000	0.32468	7.120000	0.77153	1.349000	0.45751	0.462000	0.41574	.		0.662	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631	Intron	9	76	0	0	0	1	0	9	76				
ZNF318	24149	broad.mit.edu	37	6	43305558	43305558	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:43305558C>T	ENST00000361428.2	-	10	6255	c.6178G>A	c.(6178-6180)Gct>Act	p.A2060T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2060					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCGAAGTCAGCGGGATCGGAG	0.458																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(6178-6180)Gct>Act		zinc finger protein 318							89.0	81.0	84.0					6																	43305558		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305558C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6178G>A	6.37:g.43305558C>T	ENSP00000354964:p.Ala2060Thr					ZNF318_ENST00000318149.3_Intron	p.A2060T	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6255	-			2060					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6178G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.537430	0.00143	.	.	ENSG00000171467	ENST00000361428	T	0.10860	2.83	5.51	-4.91	0.03085	.	0.811143	0.11181	N	0.590914	T	0.00524	0.0017	N	0.01576	-0.805	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.40308	-0.9570	10	0.02654	T	1	0.2862	3.0909	0.06294	0.1057:0.378:0.2166:0.2996	.	2060	Q5VUA4	ZN318_HUMAN	T	2060	ENSP00000354964:A2060T	ENSP00000354964:A2060T	A	-	1	0	ZNF318	43413536	0.009000	0.17119	0.001000	0.08648	0.003000	0.03518	-0.202000	0.09451	-1.196000	0.02676	-1.170000	0.01741	GCT		0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		4	167	0	0	0	1	0	4	167				
SPAG9	9043	broad.mit.edu	37	17	49197893	49197893	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:49197893T>C	ENST00000262013.7	-	1	333	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	SPAG9_ENST00000505279.1_Missense_Mutation_p.Y42C|SPAG9_ENST00000357122.4_Missense_Mutation_p.Y42C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	42					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCCTCGTCATAGCGCCCGAT	0.667																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(124-126)tAt>tGt		sperm associated antigen 9							57.0	50.0	52.0					17																	49197893		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49197893T>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.125A>G	17.37:g.49197893T>C	ENSP00000262013:p.Tyr42Cys					SPAG9_ENST00000505279.1_Missense_Mutation_p.Y42C|SPAG9_ENST00000357122.4_Missense_Mutation_p.Y42C	p.Y42C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		1	333	-			42					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.125A>G	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299907	0.81136	.	.	ENSG00000008294	ENST00000262013;ENST00000505279;ENST00000357122;ENST00000546269	T;T;T	0.61627	0.09;0.09;0.09	3.66	3.66	0.41972	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.56097	U	0.000024	T	0.76716	0.4026	M	0.85373	2.75	0.53005	D	0.999968	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.81022	-0.1121	10	0.87932	D	0	-5.5089	12.6329	0.56667	0.0:0.0:0.0:1.0	.	42;42;42	O60271-2;O60271;O60271-4	.;JIP4_HUMAN;.	C	42	ENSP00000262013:Y42C;ENSP00000426900:Y42C;ENSP00000349636:Y42C	ENSP00000262013:Y42C	Y	-	2	0	SPAG9	46552892	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.205000	0.77881	1.434000	0.47414	0.248000	0.18094	TAT		0.667	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		6	36	0	0	0	1	0	6	36				
WNT2	7472	broad.mit.edu	37	7	116955280	116955280	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr7:116955280C>T	ENST00000265441.3	-	3	732	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	145					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTGTCCTTGGCGCTTCCCATC	0.473																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(433-435)Gcc>Acc		wingless-type MMTV integration site family member 2							150.0	135.0	140.0					7																	116955280		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955280C>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.433G>A	7.37:g.116955280C>T	ENSP00000265441:p.Ala145Thr					AC002465.2_ENST00000436097.1_RNA	p.A145T	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	732	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		145					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.433G>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296997	0.23650	.	.	ENSG00000105989	ENST00000265441	T	0.75704	-0.96	5.56	1.3	0.21679	.	0.261889	0.38548	N	0.001660	T	0.55386	0.1917	L	0.28776	0.89	0.24240	N	0.995362	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.45011	-0.9290	10	0.51188	T	0.08	.	2.9212	0.05770	0.3319:0.4205:0.1099:0.1377	.	145;145	A4D0V1;P09544	.;WNT2_HUMAN	T	145	ENSP00000265441:A145T	ENSP00000265441:A145T	A	-	1	0	WNT2	116742516	0.056000	0.20664	0.298000	0.25002	0.947000	0.59692	0.502000	0.22594	0.333000	0.23563	0.655000	0.94253	GCC		0.473	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		6	196	0	0	0	1	0	6	196				
TLR6	10333	broad.mit.edu	37	4	38829460	38829460	+	Missense_Mutation	SNP	G	G	T	rs369506555		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:38829460G>T	ENST00000381950.1	-	1	1700	c.1635C>A	c.(1633-1635)gaC>gaA	p.D545E	TLR6_ENST00000436693.2_Missense_Mutation_p.D545E			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	545	LRRCT.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGATACTTGGTCTATATTTT	0.418																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1633-1635)gaC>gaA		toll-like receptor 6							203.0	214.0	210.0					4																	38829460		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829460G>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1635C>A	4.37:g.38829460G>T	ENSP00000371376:p.Asp545Glu					TLR6_ENST00000381950.1_Missense_Mutation_p.D545E	p.D545E	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	1754	-			545			LRRCT.		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1635C>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.687373	0.00006	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.51071	0.72;0.72	4.92	3.17	0.36434	Cysteine-rich flanking region, C-terminal (1);	0.539137	0.18111	N	0.151371	T	0.12305	0.0299	N	0.00462	-1.47	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35301	-0.9794	10	0.02654	T	1	.	7.6228	0.28195	0.07:0.2177:0.6024:0.1099	.	545	Q9Y2C9	TLR6_HUMAN	E	545	ENSP00000389600:D545E;ENSP00000371376:D545E	ENSP00000371376:D545E	D	-	3	2	TLR6	38505855	0.000000	0.05858	0.090000	0.20809	0.191000	0.23601	-0.463000	0.06696	0.130000	0.18549	-2.056000	0.00403	GAC		0.418	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			6	566	1	0	8.12818e-05	1	8.6362e-05	6	566				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	175	0	0	0	1	0	21	175				
DNMT3L	29947	broad.mit.edu	37	21	45666374	45666374	+	Missense_Mutation	SNP	G	G	A	rs141318231		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr21:45666374G>A	ENST00000418993.1	-	12	1550	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	DNMT3L_ENST00000270172.3_Missense_Mutation_p.A357V	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	356					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CCACTTGGCCGCGAGCTTCGA	0.507																																						ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.(1069-1071)gCg>gTg		DNA (cytosine-5-)-methyltransferase 3-like		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	49.0	50.0	50.0		1070,1067	0.4	0.0	21	dbSNP_134	50	0,8598		0,0,4299	no	missense,missense	DNMT3L	NM_013369.2,NM_175867.1	64,64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	357/388,356/387	45666374	1,13003	2203	4299	6502	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45666374G>A	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1067C>T	21.37:g.45666374G>A	ENSP00000412862:p.Ala356Val					DNMT3L_ENST00000418993.1_Missense_Mutation_p.A356V	p.A357V	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	12	1553	-			356					E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.1070C>T	CCDS46650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.20|10.20	1.284667|1.284667	0.23392|0.23392	2.27E-4|2.27E-4	0.0|0.0	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	D;D|.	0.82893|.	-1.66;-1.66|.	4.17|4.17	0.441|0.441	0.16577|0.16577	.|.	0.521506|.	0.14056|.	U|.	0.344380|.	T|T	0.17577|0.17577	0.0422|0.0422	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.31435|.	0.323;0.323|.	B;B|.	0.14023|.	0.01;0.01|.	T|T	0.23868|0.23868	-1.0176|-1.0176	10|5	0.44086|.	T|.	0.13|.	-1.353|-1.353	3.4411|3.4411	0.07463|0.07463	0.1547:0.0:0.3735:0.4719|0.1547:0.0:0.3735:0.4719	.|.	357;356|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	V|W	357;356|151	ENSP00000270172:A357V;ENSP00000412862:A356V|.	ENSP00000270172:A357V|.	A|R	-|-	2|1	0|2	DNMT3L|DNMT3L	44490802|44490802	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.215000|0.215000	0.17562|0.17562	0.275000|0.275000	0.22094|0.22094	-0.274000|-0.274000	0.10170|0.10170	GCG|CGG		0.507	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		5	148	0	0	0	1	0	5	148				
SFRP2	6423	broad.mit.edu	37	4	154709562	154709562	+	Silent	SNP	G	G	A	rs142242428	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:154709562G>A	ENST00000274063.4	-	1	710	c.426C>T	c.(424-426)tgC>tgT	p.C142C		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	142	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GGAAACGGTCGCACTCAAGCA	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17676	0.0		0.0	False		,,,				2504	0.0					ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(424-426)tgC>tgT		secreted frizzled-related protein 2		G		7,4399	12.9+/-30.5	0,7,2196	79.0	80.0	80.0		426	0.5	1.0	4	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous	SFRP2	NM_003013.2		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		142/296	154709562	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709562G>A	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.426C>T	4.37:g.154709562G>A							p.C142C	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	710	-	all_hematologic(180;0.093)	Renal(120;0.117)	142			FZ.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.426C>T	CCDS34082.1																																																																																				0.647	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			13	135	0	0	0	1	0	13	135				
DMBT1	1755	broad.mit.edu	37	10	124333279	124333279	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:124333279G>A	ENST00000338354.3	+	6	389		c.e6+1		DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTAGCAGAAGGTAACGTCTAC	0.527																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.e6+1		deleted in malignant brain tumors 1							168.0	166.0	167.0					10																	124333279		1892	4111	6003	SO:0001630	splice_region_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124333279G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.283+1G>A	10.37:g.124333279G>A						DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site				Q9UGM3	DMBT1_HUMAN			6	389	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)						A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Splice_Site	SNP	ENST00000338354.3	37			.	.	.	.	.	.	.	.	.	.	G	6.236	0.411655	0.11812	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	3.13	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.31902	N	0.615791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1777	0.15143	0.2756:0.0:0.7244:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMBT1	124323269	0.997000	0.39634	0.274000	0.24659	0.013000	0.08279	1.306000	0.33505	0.366000	0.24427	-0.136000	0.14681	.		0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	Intron	35	330	0	0	0	1	0	35	330				
MED12L	116931	broad.mit.edu	37	3	150834225	150834225	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:150834225C>T	ENST00000474524.1	+	2	238	c.200C>T	c.(199-201)tCa>tTa	p.S67L	MED12L_ENST00000309237.4_Missense_Mutation_p.S67L|MED12L_ENST00000422248.2_Missense_Mutation_p.S67L|MED12L_ENST00000273432.4_Missense_Mutation_p.S67L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	67						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)			ATTAACCCATCAAAGGTAATG	0.363																																						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.(199-201)tCa>tTa		mediator complex subunit 12-like							93.0	92.0	92.0					3																	150834225		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150834225C>T	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.200C>T	3.37:g.150834225C>T	ENSP00000417235:p.Ser67Leu					MED12L_ENST00000309237.4_Missense_Mutation_p.S67L|MED12L_ENST00000422248.2_Missense_Mutation_p.S67L|MED12L_ENST00000273432.4_Missense_Mutation_p.S67L	p.S67L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		2	238	+			67					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.200C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196975	0.79015	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.60920	0.49;0.49;0.38;0.15	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000003	T	0.68604	0.3019	L	0.50333	1.59	0.36155	D	0.84771	P;P;P;D	0.62365	0.782;0.9;0.884;0.991	B;P;B;P	0.58520	0.26;0.452;0.426;0.84	T	0.76950	-0.2769	10	0.87932	D	0	-10.2171	18.1844	0.89788	0.0:1.0:0.0:0.0	.	67;67;67;67	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	L	67	ENSP00000403308:S67L;ENSP00000310760:S67L;ENSP00000417235:S67L;ENSP00000273432:S67L	ENSP00000273432:S67L	S	+	2	0	MED12L	152316915	0.996000	0.38824	1.000000	0.80357	0.878000	0.50629	7.478000	0.81082	2.378000	0.81104	0.484000	0.47621	TCA		0.363	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	51	0	0	0	1	0	9	51				
CDHR1	92211	broad.mit.edu	37	10	85973974	85973974	+	Missense_Mutation	SNP	G	G	A	rs142917517		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:85973974G>A	ENST00000372117.3	+	17	2280	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	CDHR1_ENST00000440770.2_Missense_Mutation_p.R430H|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	726					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCTTCTGGCGCAACAAGAAG	0.642																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2176-2178)cGc>cAc		cadherin-related family member 1		G	,HIS/ARG	0,4406		0,0,2203	60.0	66.0	64.0		,2177	5.5	1.0	10	dbSNP_134	64	1,8597	1.2+/-3.3	0,1,4298	no	intron,missense	CDHR1	NM_001171971.1,NM_033100.2	,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,726/860	85973974	1,13003	2203	4299	6502	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973974G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2177G>A	10.37:g.85973974G>A	ENSP00000361189:p.Arg726His					CDHR1_ENST00000440770.2_Missense_Mutation_p.R430H|CDHR1_ENST00000332904.3_Intron	p.R726H	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2280	+			726					Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2177G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	36	5.728608	0.96856	0.0	1.16E-4	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.60299	0.4;0.2	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.78494	-0.2182	10	0.62326	D	0.03	-16.5148	18.2273	0.89921	0.0:0.0:1.0:0.0	.	430;726	E7EN47;Q96JP9	.;CDHR1_HUMAN	H	726;430	ENSP00000361189:R726H;ENSP00000415980:R430H	ENSP00000361189:R726H	R	+	2	0	CDHR1	85963954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.394000	0.73223	2.596000	0.87737	0.561000	0.74099	CGC		0.642	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		4	180	0	0	0	1	0	4	180				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	91	0	0	0	1	0	4	91				
AFF3	3899	broad.mit.edu	37	2	100170874	100170874	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:100170874C>T	ENST00000409236.2	-	22	3570	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H	AFF3_ENST00000409579.1_Missense_Mutation_p.R1178H|AFF3_ENST00000317233.4_Missense_Mutation_p.R1153H|AFF3_ENST00000356421.2_Missense_Mutation_p.R1178H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1153					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R1178H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGGTGGATGCGCTGTGGGAT	0.632																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.R1178H(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(3457-3459)cGc>cAc		AF4/FMR2 family, member 3							123.0	107.0	113.0					2																	100170874		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100170874C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3458G>A	2.37:g.100170874C>T	ENSP00000387207:p.Arg1153His					AFF3_ENST00000356421.2_Missense_Mutation_p.R1178H|AFF3_ENST00000409579.1_Missense_Mutation_p.R1178H|AFF3_ENST00000409236.1_Missense_Mutation_p.R1153H	p.R1153H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			23	3693	-			1153					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3458G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	36	5.770594	0.96914	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	M	0.75264	2.295	0.80722	D	1	P;D	0.89917	0.806;1.0	P;D	0.91635	0.538;0.999	T	0.82416	-0.0468	10	0.49607	T	0.09	.	19.3609	0.94438	0.0:1.0:0.0:0.0	.	1153;1178	P51826;P51826-2	AFF3_HUMAN;.	H	1153;1178;1178;1153;179	ENSP00000317421:R1153H;ENSP00000348793:R1178H;ENSP00000386834:R1178H;ENSP00000387207:R1153H;ENSP00000416685:R179H	ENSP00000317421:R1153H	R	-	2	0	AFF3	99537306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.569000	0.86673	0.655000	0.94253	CGC		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		4	179	0	0	0	1	0	4	179				
DKKL1	27120	broad.mit.edu	37	19	49867940	49867940	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:49867940G>A	ENST00000221498.2	+	2	517	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TEAD2_ENST00000539846.1_5'Flank|TEAD2_ENST00000593945.1_5'Flank|DKKL1_ENST00000594268.1_Intron|TEAD2_ENST00000601519.1_5'Flank|TEAD2_ENST00000311227.2_5'Flank	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	38					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		TGATGCTGACGCCCAAGAGAG	0.622																																						ENST00000221498.2																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(112-114)Gcc>Acc		dickkopf-like 1							59.0	54.0	56.0					19																	49867940		2203	4300	6503	SO:0001583	missense	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49867940G>A	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.112G>A	19.37:g.49867940G>A	ENSP00000221498:p.Ala38Thr					DKKL1_ENST00000594268.1_Intron	p.A38T	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	2	517	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	38						Missense_Mutation	SNP	ENST00000221498.2	37	c.112G>A	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199258	0.38806	.	.	ENSG00000104901	ENST00000221498	T	0.12147	2.71	4.17	-1.52	0.08637	.	1.596950	0.03912	N	0.282123	T	0.10937	0.0267	L	0.36672	1.1	0.09310	N	1	B	0.28584	0.216	B	0.13407	0.009	T	0.34453	-0.9828	10	0.62326	D	0.03	-1.413	6.5032	0.22180	0.1049:0.0:0.4705:0.4246	.	38	Q9UK85	DKKL1_HUMAN	T	38	ENSP00000221498:A38T	ENSP00000221498:A38T	A	+	1	0	DKKL1	54559752	0.000000	0.05858	0.007000	0.13788	0.651000	0.38670	-1.091000	0.03369	-0.324000	0.08589	0.561000	0.74099	GCC		0.622	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		22	86	0	0	0	1	0	22	86				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	129	0	0	0	1	0	6	129				
PKD1	5310	broad.mit.edu	37	16	2143667	2143667	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:2143667C>T	ENST00000262304.4	-	37	11102	c.10894G>A	c.(10894-10896)Gag>Aag	p.E3632K	RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.E3631K	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3632			E -> D (in PKD1). {ECO:0000269|PubMed:11773467, ECO:0000269|PubMed:8554072}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCGGGCTCTCTACCAGGGTG	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(10894-10896)Gag>Aag		polycystic kidney disease 1 (autosomal dominant)																																				SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2143667C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10894G>A	16.37:g.2143667C>T	ENSP00000262304:p.Glu3632Lys					RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.E3631K	p.E3632K	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			37	11102	-			3632		E -> D (in ADPKD1).			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.10894G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634224	0.67130	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.39229	1.09;1.09	4.87	4.87	0.63330	.	0.060413	0.64402	D	0.000005	T	0.62792	0.2457	M	0.61703	1.905	0.46774	D	0.999196	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.62859	-0.6765	10	0.42905	T	0.14	.	18.0416	0.89320	0.0:1.0:0.0:0.0	.	3631;3632	P98161-3;P98161	.;PKD1_HUMAN	K	3632;3631;2966	ENSP00000262304:E3632K;ENSP00000399501:E3631K	ENSP00000262304:E3632K	E	-	1	0	PKD1	2083668	1.000000	0.71417	0.068000	0.19968	0.186000	0.23388	5.374000	0.66167	2.257000	0.74773	0.561000	0.74099	GAG		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	40	0	0	0	1	0	3	40				
RALGAPB	57148	broad.mit.edu	37	20	37203492	37203492	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr20:37203492A>T	ENST00000262879.6	+	30	4651	c.4367A>T	c.(4366-4368)cAt>cTt	p.H1456L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.H1453L|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H1456L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.H1235L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1456					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTCCCCCCCATGTCCGCCGG	0.438																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(4366-4368)cAt>cTt		Ral GTPase activating protein, beta subunit (non-catalytic)							91.0	98.0	96.0					20																	37203492		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37203492A>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4367A>T	20.37:g.37203492A>T	ENSP00000262879:p.His1456Leu					RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H1453L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.H1235L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H1456L	p.H1456L			Q86X10	RLGPB_HUMAN			30	4651	+			1456					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.4367A>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569051	0.86439	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	M	0.74881	2.28	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	D	0.96716	0.9529	10	0.66056	D	0.02	.	16.3109	0.82869	1.0:0.0:0.0:0.0	.	1453;1456	A2A2E9;Q86X10	.;RLGPB_HUMAN	L	1456;1453;1235;1456;1285	ENSP00000262879:H1456L;ENSP00000380235:H1453L;ENSP00000380231:H1235L;ENSP00000380233:H1456L;ENSP00000416646:H1285L	ENSP00000262879:H1456L	H	+	2	0	RALGAPB	36636906	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	9.339000	0.96797	2.257000	0.74773	0.460000	0.39030	CAT		0.438	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		14	219	0	0	0	1	0	14	219				
HTR2C	3358	broad.mit.edu	37	X	114082755	114082755	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:114082755C>T	ENST00000276198.1	+	5	1267	c.539C>T	c.(538-540)gCa>gTa	p.A180V	HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.A180V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	180					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATTGTTTGGGCAATTTCTATA	0.408																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(538-540)gCa>gTa		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						93.0	79.0	84.0					X																	114082755		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082755C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.539C>T	X.37:g.114082755C>T	ENSP00000276198:p.Ala180Val					HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.A180V	p.A180V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			5	1267	+			180					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.539C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	6.009	0.370003	0.11352	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.35048	1.33;1.33	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.068827	0.56097	D	0.000025	T	0.19525	0.0469	N	0.05078	-0.115	0.80722	D	1	B	0.25105	0.118	B	0.33254	0.16	T	0.06463	-1.0825	10	0.06625	T	0.88	.	13.96	0.64172	0.0:1.0:0.0:0.0	.	180	P28335	5HT2C_HUMAN	V	180	ENSP00000276198:A180V;ENSP00000361019:A180V	ENSP00000276198:A180V	A	+	2	0	HTR2C	113989011	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.826000	0.62715	1.863000	0.54032	0.600000	0.82982	GCA		0.408	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		27	155	0	0	0	1	0	27	155				
CDK12	51755	broad.mit.edu	37	17	37686866	37686866	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:37686866C>G	ENST00000447079.4	+	14	3803	c.3770C>G	c.(3769-3771)cCt>cGt	p.P1257R	CDK12_ENST00000430627.2_Intron	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1257					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCATGTCCTCCTCACATTCTT	0.512			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3769-3771)cCt>cGt		cyclin-dependent kinase 12							101.0	130.0	120.0					17																	37686866		2199	4289	6488	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37686866C>G	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3770C>G	17.37:g.37686866C>G	ENSP00000398880:p.Pro1257Arg	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Intron	p.P1257R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	3803	+			1257					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3770C>G	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846118	0.32606	.	.	ENSG00000167258	ENST00000447079	T	0.78126	-1.15	5.35	5.35	0.76521	.	0.000000	0.46145	D	0.000316	T	0.82130	0.4970	L	0.34521	1.04	0.44352	D	0.997246	D	0.71674	0.998	D	0.78314	0.991	T	0.80320	-0.1432	10	0.36615	T	0.2	-9.3213	16.606	0.84830	0.0:1.0:0.0:0.0	.	1257	Q9NYV4	CDK12_HUMAN	R	1257	ENSP00000398880:P1257R	ENSP00000398880:P1257R	P	+	2	0	CDK12	34940392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.312000	0.65792	2.789000	0.95967	0.655000	0.94253	CCT		0.512	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		12	492	0	0	0	1	0	12	492				
HLA-C	3107	broad.mit.edu	37	6	31237284	31237284	+	Missense_Mutation	SNP	C	C	T	rs76294545	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:31237284C>T	ENST00000376228.5	-	6	1048	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y	HLA-C_ENST00000383329.3_Missense_Mutation_p.C351Y	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	351					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGCCTGAGAGCAGCTCCCTCC	0.587													C|||	3	0.000599042	0.0	0.0	5008	,	,		18458	0.003		0.0	False		,,,				2504	0.0					ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1051-1053)tGc>tAc		major histocompatibility complex, class I, C							64.0	69.0	67.0					6																	31237284		2203	4300	6503	SO:0001583	missense	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31237284C>T	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.1034G>A	6.37:g.31237284C>T	ENSP00000365402:p.Cys345Tyr					HLA-C_ENST00000376228.5_Missense_Mutation_p.C345Y	p.C351Y			Q9TNN7	1C05_HUMAN			6	1066	-			345					O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.1052G>A	CCDS34393.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	.	1.289	-0.608200	0.03717	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000539307	T;T	0.00563	6.58;6.58	2.82	1.61	0.23674	MHC class I, alpha chain, C-terminal (1);	.	.	.	.	T	0.00039	0.0001	N	0.00010	-3.045	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15052	0.007;0.012;0.007	T	0.21861	-1.0233	9	0.02654	T	1	.	4.7477	0.13045	0.0:0.1528:0.0:0.8472	.	345;351;345	A6H578;A2AEA2;P10321	.;.;1C07_HUMAN	Y	345;351;382	ENSP00000365402:C345Y;ENSP00000372819:C351Y	ENSP00000365402:C345Y	C	-	2	0	HLA-C	31345263	0.004000	0.15560	0.001000	0.08648	0.178000	0.23041	0.028000	0.13644	0.499000	0.27970	-0.856000	0.03024	TGC		0.587	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		4	88	0	0	0	1	0	4	88				
CEP97	79598	broad.mit.edu	37	3	101484296	101484296	+	Silent	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:101484296C>T	ENST00000341893.3	+	11	3251	c.2499C>T	c.(2497-2499)agC>agT	p.S833S	CEP97_ENST00000494050.1_Silent_p.S774S|CEP97_ENST00000327230.4_Silent_p.S859S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	833					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGAAATTAGCCAGACACAAG	0.418																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(2497-2499)agC>agT		centrosomal protein 97kDa							125.0	125.0	125.0					3																	101484296		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101484296C>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.2499C>T	3.37:g.101484296C>T						CEP97_ENST00000494050.1_Silent_p.S774S|CEP97_ENST00000327230.4_Silent_p.S859S	p.S833S			Q8IW35	CEP97_HUMAN			11	3251	+			833					B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.2499C>T	CCDS2944.1																																																																																				0.418	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		5	412	0	0	0	1	0	5	412				
SAP18	10284	broad.mit.edu	37	13	21721465	21721465	+	Missense_Mutation	SNP	G	G	A	rs376710499		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr13:21721465G>A	ENST00000607003.1	+	4	478	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SAP18_ENST00000382533.4_Missense_Mutation_p.R168H			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	149	Involved in splicing regulation activity.				mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R149H(1)		kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCTTCAGGGCGCATGAGACCA	0.403																																						ENST00000382533.4																			1	Substitution - Missense(1)	p.R149H(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(4)	6						c.(502-504)cGc>cAc		Sin3A-associated protein, 18kDa		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	109.0	107.0		503	4.1	1.0	13		107	0,8600		0,0,4300	no	missense	SAP18	NM_005870.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	168/173	21721465	1,13005	2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21721465G>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"""sin3A-associated protein, 18kDa"""			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.446G>A	13.37:g.21721465G>A	ENSP00000475925:p.Arg149His					SAP18_ENST00000607003.1_Missense_Mutation_p.R149H	p.R168H	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	4	542	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	149					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.503G>A		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617576	0.66787	2.27E-4	0.0	ENSG00000150459	ENST00000382533	.	.	.	5.87	4.11	0.48088	.	0.141472	0.64402	D	0.000005	T	0.68559	0.3014	M	0.84683	2.71	0.58432	D	0.999997	B	0.14438	0.01	B	0.11329	0.006	T	0.66139	-0.5998	9	0.52906	T	0.07	-1.9179	10.9028	0.47062	0.0671:0.0:0.802:0.1309	.	149	O00422	SAP18_HUMAN	H	168	.	ENSP00000371973:R168H	R	+	2	0	SAP18	20619465	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.718000	0.98758	0.790000	0.33803	0.655000	0.94253	CGC		0.403	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		5	324	0	0	0	1	0	5	324				
ZNF320	162967	broad.mit.edu	37	19	53384108	53384108	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:53384108C>T	ENST00000595635.1	-	8	1772	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	ZNF320_ENST00000391781.2_Missense_Mutation_p.R424H|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTGTGATTTGCGAATGTAAAC	0.388																																						ENST00000595635.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24						c.(1270-1272)cGc>cAc		zinc finger protein 320							91.0	81.0	84.0					19																	53384108		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384108C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1271G>A	19.37:g.53384108C>T	ENSP00000473091:p.Arg424His					ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R424H|ZNF320_ENST00000597909.1_Intron	p.R424H	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	8	1772	-			424					Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1271G>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	2.947	-0.217534	0.06101	.	.	ENSG00000182986	ENST00000391781	T	0.36157	1.27	1.74	-3.48	0.04739	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16128	0.0388	N	0.25332	0.735	0.09310	N	1	B	0.30326	0.276	B	0.19666	0.026	T	0.26467	-1.0102	9	0.13108	T	0.6	.	4.1187	0.10095	0.1605:0.4108:0.0:0.4287	.	424	A2RRD8	ZN320_HUMAN	H	424	ENSP00000375660:R424H	ENSP00000375660:R424H	R	-	2	0	ZNF320	58075920	0.000000	0.05858	0.000000	0.03702	0.534000	0.34807	-4.597000	0.00210	-0.808000	0.04387	0.184000	0.17185	CGC		0.388	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		4	165	0	0	0	1	0	4	165				
GRIN2A	2903	broad.mit.edu	37	16	10032029	10032029	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:10032029G>A	ENST00000396573.2	-	4	1103	c.794C>T	c.(793-795)aCg>aTg	p.T265M	GRIN2A_ENST00000562109.1_Missense_Mutation_p.T265M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T265M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T108M|GRIN2A_ENST00000566670.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	265					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T265M(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATGAGCTCCGTGTTCCCAGA	0.552																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.T265M(1)	large_intestine(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(793-795)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						71.0	60.0	64.0					16																	10032029		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032029G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.794C>T	16.37:g.10032029G>A	ENSP00000379818:p.Thr265Met					GRIN2A_ENST00000330684.3_Missense_Mutation_p.T265M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T108M|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T265M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T265M	p.T265M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			4	1103	-			265					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.794C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.947562	0.73787	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.2	5.2	0.72013	Extracellular ligand-binding receptor (1);	0.156108	0.56097	D	0.000024	D	0.87293	0.6141	L	0.58669	1.825	0.41827	D	0.990057	P;P;D	0.69078	0.81;0.939;0.997	B;P;P	0.56343	0.24;0.489;0.796	D	0.86740	0.1954	9	.	.	.	.	18.0961	0.89490	0.0:0.0:1.0:0.0	.	108;265;265	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	265;265;108;265;265	ENSP00000379818:T265M;ENSP00000385872:T265M;ENSP00000441572:T108M;ENSP00000332549:T265M;ENSP00000379820:T265M	.	T	-	2	0	GRIN2A	9939530	1.000000	0.71417	0.952000	0.39060	0.986000	0.74619	6.481000	0.73608	2.582000	0.87167	0.561000	0.74099	ACG		0.552	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			5	122	0	0	0	1	0	5	122				
AVPR2	554	broad.mit.edu	37	X	153171401	153171401	+	Silent	SNP	G	G	A	rs143055328		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:153171401G>A	ENST00000358927.2	+	3	650	c.441G>A	c.(439-441)gcG>gcA	p.A147A	AVPR2_ENST00000337474.5_Silent_p.A147A|AVPR2_ENST00000370049.1_Silent_p.A147A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	147			A -> V (in dbSNP:rs5200).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCATGCTGGCGTACCGCCATG	0.627													G|||	4	0.0010596	0.0	0.0029	3775	,	,		13789	0.0		0.0	False		,,,				2504	0.002					ENST00000358927.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26						c.(439-441)gcG>gcA		arginine vasopressin receptor 2	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	G	,	0,3835		0,0,1632,571	72.0	56.0	62.0		441,441	-7.1	0.8	X	dbSNP_134	62	3,6725		0,3,2425,1872	no	coding-synonymous,coding-synonymous	AVPR2	NM_000054.4,NM_001146151.1	,	0,3,4057,2443	AA,AG,GG,G		0.0446,0.0,0.0284	,	147/372,147/310	153171401	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171401G>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.441G>A	X.37:g.153171401G>A						AVPR2_ENST00000370049.1_Silent_p.A147A|AVPR2_ENST00000337474.5_Silent_p.A147A	p.A147A			P30518	V2R_HUMAN			3	650	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		147		A -> V (in dbSNP:rs5200).			C5HF20|O43192|Q3MJD3|Q9UCV9	Silent	SNP	ENST00000358927.2	37	c.441G>A	CCDS14735.1																																																																																				0.627	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			14	159	0	0	0	1	0	14	159				
PLD3	23646	broad.mit.edu	37	19	40872763	40872763	+	Silent	SNP	C	C	T	rs535493639		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:40872763C>T	ENST00000409587.1	+	5	583	c.186C>T	c.(184-186)taC>taT	p.Y62Y	PLD3_ENST00000409735.4_Silent_p.Y62Y|PLD3_ENST00000356508.5_Silent_p.Y62Y|PLD3_ENST00000409281.1_Silent_p.Y62Y|PLD3_ENST00000409419.1_Silent_p.Y62Y			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	62					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TATGGGAATACGGCGACTTGC	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17215	0.0		0.0	False		,,,				2504	0.0					ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(184-186)taC>taT		phospholipase D family, member 3							74.0	70.0	71.0					19																	40872763		2203	4300	6503	SO:0001819	synonymous_variant	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40872763C>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.186C>T	19.37:g.40872763C>T						PLD3_ENST00000409419.1_Silent_p.Y62Y|PLD3_ENST00000409735.4_Silent_p.Y62Y|PLD3_ENST00000356508.5_Silent_p.Y62Y|PLD3_ENST00000409281.1_Silent_p.Y62Y	p.Y62Y			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		5	583	+			62					Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.186C>T	CCDS33027.1																																																																																				0.632	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		4	185	0	0	0	1	0	4	185				
RGAG4	340526	broad.mit.edu	37	X	71351177	71351177	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:71351177C>T	ENST00000545866.1	-	1	581	c.214G>A	c.(214-216)Gcg>Acg	p.A72T	RGAG4_ENST00000609883.1_Missense_Mutation_p.A72T|NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000373677.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	72										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCACTGAGCGCGAACTCCAAG	0.597																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(214-216)Gcg>Acg		retrotransposon gag domain containing 4							42.0	46.0	45.0					X																	71351177		1978	4133	6111	SO:0001583	missense	340526							g.chrX:71351177C>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.214G>A	X.37:g.71351177C>T	ENSP00000441366:p.Ala72Thr					NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.A72T	p.A72T			Q5HYW3	RGAG4_HUMAN			1	581	-	Renal(35;0.156)		72					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.214G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229122	0.39399	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12147	2.71;2.71	4.09	2.24	0.28232	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.21355	N	0.999715	B	0.30634	0.288	B	0.19148	0.024	T	0.40327	-0.9569	8	.	.	.	.	9.2763	0.37700	0.0:0.436:0.564:0.0	.	72	Q5HYW3	RGAG4_HUMAN	T	72	ENSP00000441366:A72T;ENSP00000418667:A72T	.	A	-	1	0	RGAG4	71267902	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	1.169000	0.31871	0.454000	0.26884	-0.281000	0.10026	GCG		0.597	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		9	131	0	0	0	1	0	9	131				
CCDC155	147872	broad.mit.edu	37	19	49898519	49898519	+	Missense_Mutation	SNP	G	G	A	rs62623430	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:49898519G>A	ENST00000447857.3	+	4	510	c.305G>A	c.(304-306)cGt>cAt	p.R102H		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	102						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GTTGTCATGCGTGACTGGATT	0.552													G|||	3	0.000599042	0.0	0.0029	5008	,	,		20505	0.0		0.001	False		,,,				2504	0.0					ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(304-306)cGt>cAt		coiled-coil domain containing 155		G	HIS/ARG	1,4299		0,1,2149	112.0	116.0	115.0		305	3.2	1.0	19	dbSNP_129	115	5,8503		0,5,4249	yes	missense	CCDC155	NM_144688.4	29	0,6,6398	AA,AG,GG		0.0588,0.0233,0.0468	probably-damaging	102/563	49898519	6,12802	2150	4254	6404	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49898519G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.305G>A	19.37:g.49898519G>A	ENSP00000404220:p.Arg102His						p.R102H	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			4	510	+			102					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.305G>A	CCDS46140.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	19.79	3.892399	0.72524	2.33E-4	5.88E-4	ENSG00000161609	ENST00000447857	T	0.63580	-0.05	4.48	3.24	0.37175	EF-hand-like domain (1);	0.226336	0.35320	N	0.003284	T	0.71031	0.3292	M	0.76574	2.34	0.28463	N	0.915768	D;D;D	0.71674	0.991;0.991;0.998	P;P;P	0.62740	0.747;0.747;0.906	T	0.64253	-0.6451	10	0.66056	D	0.02	-10.1713	5.5324	0.16993	0.1878:0.0:0.8122:0.0	rs62623430	102;102;182	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	H	102	ENSP00000404220:R102H	ENSP00000404220:R102H	R	+	2	0	CCDC155	54590331	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.228000	0.42981	2.226000	0.72624	0.561000	0.74099	CGT		0.552	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		25	143	0	0	0	1	0	25	143				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	265	0	0	0	1	0	4	265				
TBC1D8B	54885	broad.mit.edu	37	X	106082571	106082571	+	Missense_Mutation	SNP	G	G	T	rs138021287		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:106082571G>T	ENST00000357242.5	+	8	1411	c.1237G>T	c.(1237-1239)Gat>Tat	p.D413Y	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D413Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D407Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	413							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAGCCATCTGATAATTTTGA	0.378																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1237-1239)Gat>Tat		TBC1 domain family, member 8B (with GRAM domain)							139.0	131.0	134.0					X																	106082571		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106082571G>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1237G>T	X.37:g.106082571G>T	ENSP00000349781:p.Asp413Tyr					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D407Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D413Y	p.D413Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			8	1411	+			413					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1237G>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602470	0.28534	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.14516	3.08;2.5;3.04	5.45	3.56	0.40772	.	0.252808	0.38492	N	0.001667	T	0.09598	0.0236	N	0.22421	0.69	0.09310	N	1	P;P	0.39624	0.681;0.667	B;B	0.38921	0.254;0.285	T	0.14839	-1.0458	10	0.51188	T	0.08	-2.5369	9.1723	0.37089	0.0949:0.1606:0.7445:0.0	.	413;413	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	Y	413;413;407	ENSP00000349781:D413Y;ENSP00000310675:D413Y;ENSP00000276175:D407Y	ENSP00000276175:D407Y	D	+	1	0	TBC1D8B	105969227	0.985000	0.35326	0.030000	0.17652	0.097000	0.18754	2.883000	0.48554	1.057000	0.40506	0.513000	0.50165	GAT		0.378	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		22	229	1	0	1.28384e-07	1	1.38573e-07	22	229				
PACRGL	133015	broad.mit.edu	37	4	20715062	20715062	+	Missense_Mutation	SNP	C	C	T	rs373074413		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:20715062C>T	ENST00000503585.1	+	7	900	c.509C>T	c.(508-510)tCg>tTg	p.S170L	PACRGL_ENST00000502374.1_Missense_Mutation_p.S117L|PACRGL_ENST00000444671.2_Missense_Mutation_p.S72L|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000360916.5_Missense_Mutation_p.S170L|PACRGL_ENST00000507634.1_Missense_Mutation_p.S170L|PACRGL_ENST00000295290.8_Missense_Mutation_p.S170L|PACRGL_ENST00000513459.1_Missense_Mutation_p.S117L|PACRGL_ENST00000538990.1_Missense_Mutation_p.S72L	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	170										endometrium(2)|lung(7)|prostate(1)	10						CAGGTCCATTCGGATGATGAA	0.428													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20646	0.0		0.0	False		,,,				2504	0.0					ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.(508-510)tCg>tTg		PARK2 co-regulated-like		C	LEU/SER,LEU/SER	0,4406		0,0,2203	189.0	160.0	170.0		215,509	4.1	0.6	4		170	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PACRGL	NM_001130727.1,NM_145048.3	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	72/124,170/222	20715062	1,13005	2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20715062C>T	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.509C>T	4.37:g.20715062C>T	ENSP00000423881:p.Ser170Leu					PACRGL_ENST00000502374.1_Missense_Mutation_p.S117L|PACRGL_ENST00000538990.1_Missense_Mutation_p.S72L|PACRGL_ENST00000295290.8_Missense_Mutation_p.S170L|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Missense_Mutation_p.S72L|PACRGL_ENST00000507634.1_Missense_Mutation_p.S170L|PACRGL_ENST00000503585.1_Missense_Mutation_p.S170L|PACRGL_ENST00000513459.1_Missense_Mutation_p.S117L	p.S170L	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			7	900	+			170					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.509C>T	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784427	0.49997	0.0	1.16E-4	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000513590;ENST00000514292;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T;T	0.69685	3.47;-0.42;3.47;3.47;1.37;3.47;3.47;3.47;3.47;3.47	5.88	4.07	0.47477	Armadillo-like helical (1);Armadillo-type fold (1);	0.292428	0.29892	N	0.010936	T	0.60766	0.2294	L	0.56769	1.78	0.28717	N	0.903232	B;B;B;B;B;B	0.23185	0.056;0.006;0.081;0.035;0.044;0.008	B;B;B;B;B;B	0.16722	0.016;0.004;0.01;0.016;0.016;0.002	T	0.54820	-0.8236	10	0.37606	T	0.19	-2.287	11.6143	0.51080	0.0:0.8745:0.0:0.1255	.	117;170;218;72;117;170	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	L	218;170;170;170;72;72;117;117;72;170;72;170;117;117	ENSP00000423499:S218L;ENSP00000423881:S170L;ENSP00000354171:S170L;ENSP00000295290:S170L;ENSP00000422394:S117L;ENSP00000425461:S117L;ENSP00000422425:S170L;ENSP00000425938:S170L;ENSP00000426286:S117L;ENSP00000421687:S117L	ENSP00000295290:S170L	S	+	2	0	PACRGL	20324160	0.000000	0.05858	0.564000	0.28396	0.830000	0.47004	0.845000	0.27668	0.742000	0.32697	0.655000	0.94253	TCG		0.428	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		20	125	0	0	0	1	0	20	125				
TPTE	7179	broad.mit.edu	37	21	10942732	10942732	+	Silent	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr21:10942732G>A	ENST00000361285.4	-	13	1038	c.709C>T	c.(709-711)Cta>Tta	p.L237L	TPTE_ENST00000342420.5_Silent_p.L199L|TPTE_ENST00000298232.7_Silent_p.L219L|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	237	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GTGAGGTCTAGGTCAAATCCA	0.323																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(655-657)Cta>Tta		transmembrane phosphatase with tensin homology							491.0	427.0	449.0					21																	10942732		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942732G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.709C>T	21.37:g.10942732G>A						TPTE_ENST00000361285.4_Silent_p.L237L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.L199L	p.L219L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	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)	12	1022	-			237					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.655C>T	CCDS13560.2																																																																																				0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			24	814	0	0	0	1	0	24	814				
PALM2	114299	broad.mit.edu	37	9	112686117	112686117	+	Silent	SNP	G	G	A			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr9:112686117G>A	ENST00000374531.2	+	5	440	c.366G>A	c.(364-366)aaG>aaA	p.K122K	PALM2_ENST00000448454.2_Silent_p.K122K|PALM2_ENST00000314527.4_Silent_p.K120K|AKAP2_ENST00000510514.5_Silent_p.K120K|PALM2-AKAP2_ENST00000302798.7_Silent_p.K120K|PALM2-AKAP2_ENST00000374530.3_Silent_p.K120K|AKAP2_ENST00000555236.1_Silent_p.K120K|PALM2_ENST00000483909.1_Silent_p.K120K	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	122					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AATCCTTCAAGGACTTTCAGA	0.418																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(364-366)aaG>aaA		paralemmin 2							61.0	58.0	59.0					9																	112686117		2203	4300	6503	SO:0001819	synonymous_variant	114299							g.chr9:112686117G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.366G>A	9.37:g.112686117G>A						AKAP2_ENST00000555236.1_Silent_p.K120K|PALM2_ENST00000314527.4_Silent_p.K120K|AKAP2_ENST00000510514.5_Silent_p.K120K|PALM2_ENST00000483909.1_Silent_p.K120K|PALM2_ENST00000374531.2_Silent_p.K122K|PALM2-AKAP2_ENST00000374530.3_Silent_p.K120K|PALM2-AKAP2_ENST00000302798.7_Silent_p.K120K	p.K122K							5	366	+								A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.366G>A	CCDS35099.1																																																																																				0.418	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		6	41	0	0	0	1	0	6	41				
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr7:141759688T>C	ENST00000549489.2	+	33	4076	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000475668.2_Silent_p.P1327P	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463																																						ENST00000475668.2																			2	Substitution - coding silent(2)	p.P1327P(2)	prostate(2)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3979-3981)ccT>ccC		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						50.0	43.0	45.0					7																	141759688		1935	4135	6070	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141759688T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3981T>C	7.37:g.141759688T>C						MGAM_ENST00000549489.2_Silent_p.P1327P	p.P1327P			O43451	MGA_HUMAN			33	4035	+	Melanoma(164;0.0272)		1327			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3981T>C	CCDS47727.1																																																																																				0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	44	0	0	0	1	0	4	44				
ARHGAP18	93663	broad.mit.edu	37	6	129963161	129963161	+	Missense_Mutation	SNP	C	C	T	rs143012976		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:129963161C>T	ENST00000368149.2	-	2	204	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCCATATCTGCGACTGTAAAT	0.383													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16344	0.0		0.0	False		,,,				2504	0.0					ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(115-117)cGc>cAc		Rho GTPase activating protein 18		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	94.0	94.0		116	5.0	0.2	6	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ARHGAP18	NM_033515.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	39/664	129963161	3,13003	2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129963161C>T	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.116G>A	6.37:g.129963161C>T	ENSP00000357131:p.Arg39His						p.R39H	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	2	204	-			39						Missense_Mutation	SNP	ENST00000368149.2	37	c.116G>A	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562420	0.27915	2.27E-4	2.33E-4	ENSG00000146376	ENST00000275189	.	.	.	5.89	5.02	0.67125	.	0.068669	0.53938	D	0.000043	T	0.26774	0.0655	N	0.19112	0.55	0.49582	D	0.999802	P;P	0.41498	0.71;0.752	B;B	0.42555	0.23;0.391	T	0.07947	-1.0746	8	.	.	.	.	14.9133	0.70776	0.0:0.9306:0.0:0.0694	.	39;39	A9UK01;Q8N392	.;RHG18_HUMAN	H	39	.	.	R	-	2	0	ARHGAP18	130004854	1.000000	0.71417	0.182000	0.23118	0.029000	0.11900	4.084000	0.57650	1.491000	0.48482	0.655000	0.94253	CGC		0.383	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		5	236	0	0	0	1	0	5	236				
PALM2	114299	broad.mit.edu	37	9	112686126	112686126	+	Missense_Mutation	SNP	G	G	C	rs141885294		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr9:112686126G>C	ENST00000374531.2	+	5	449	c.375G>C	c.(373-375)caG>caC	p.Q125H	PALM2_ENST00000448454.2_Missense_Mutation_p.Q125H|PALM2_ENST00000314527.4_Missense_Mutation_p.Q123H|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q123H|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q123H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q123H|AKAP2_ENST00000555236.1_Missense_Mutation_p.Q123H|PALM2_ENST00000483909.1_Missense_Mutation_p.Q123H	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	125					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGGACTTTCAGAAGGTGAAGA	0.413																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(373-375)caG>caC		paralemmin 2		G	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	2,4404	4.2+/-10.8	0,2,2201	55.0	52.0	53.0		375,369,369,369	1.0	1.0	9	dbSNP_134	53	0,8600		0,0,4300	no	missense,missense,missense,missense	PALM2,PALM2-AKAP2	NM_001037293.2,NM_007203.4,NM_053016.5,NM_147150.2	24,24,24,24	0,2,6501	CC,CG,GG		0.0,0.0454,0.0154	benign,benign,benign,benign	125/380,123/1104,123/412,123/1091	112686126	2,13004	2203	4300	6503	SO:0001583	missense	114299							g.chr9:112686126G>C	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.375G>C	9.37:g.112686126G>C	ENSP00000363656:p.Gln125His					AKAP2_ENST00000555236.1_Missense_Mutation_p.Q123H|PALM2_ENST00000314527.4_Missense_Mutation_p.Q123H|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q123H|PALM2_ENST00000483909.1_Missense_Mutation_p.Q123H|PALM2_ENST00000374531.2_Missense_Mutation_p.Q125H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q123H|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q123H	p.Q125H							5	375	+								A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.375G>C	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217595	0.58560	4.54E-4	0.0	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T;T;T	0.20069	2.25;2.25;2.25;2.25;2.25;2.1;2.25;2.11;2.1;2.11	5.86	0.96	0.19631	.	0.000000	0.52532	D	0.000063	T	0.38108	0.1028	M	0.66939	2.045	0.32322	N	0.562303	D;D;B;P	0.89917	1.0;1.0;0.122;0.889	D;D;B;P	0.87578	0.998;0.998;0.094;0.526	T	0.46303	-0.9201	10	0.87932	D	0	-22.6648	7.7357	0.28812	0.4712:0.0:0.5288:0.0	.	123;123;125;125	Q9Y2D5-6;Q9Y2D5-4;Q8IXS6;D3YTA4	.;.;PALM2_HUMAN;.	H	125;125;123;123;109;123;123;123;123;123	ENSP00000363656:Q125H;ENSP00000400206:Q125H;ENSP00000417525:Q123H;ENSP00000323805:Q123H;ENSP00000419747:Q109H;ENSP00000363654:Q123H;ENSP00000397839:Q123H;ENSP00000305861:Q123H;ENSP00000451476:Q123H;ENSP00000421522:Q123H	ENSP00000305861:Q123H	Q	+	3	2	PALM2-AKAP2;PALM2;AKAP2	111725947	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.145000	0.42207	0.415000	0.25817	-0.136000	0.14681	CAG		0.413	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		5	35	0	0	0	1	0	5	35				
NUP85	79902	broad.mit.edu	37	17	73204634	73204634	+	Missense_Mutation	SNP	G	G	A	rs199651391	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:73204634G>A	ENST00000245544.4	+	2	117	c.46G>A	c.(46-48)Gtg>Atg	p.V16M	NUP85_ENST00000541827.1_Intron|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.V16M	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	16					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GATTCCAGGCGTGAATTCCAA	0.333													G|||	23	0.00459265	0.0	0.0029	5008	,	,		16559	0.001		0.0	False		,,,				2504	0.0204					ENST00000245544.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(46-48)Gtg>Atg		nucleoporin 85kDa		G	MET/VAL	0,4406		0,0,2203	166.0	184.0	178.0		46	1.7	0.7	17		178	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUP85	NM_024844.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	16/657	73204634	1,13005	2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73204634G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.46G>A	17.37:g.73204634G>A	ENSP00000245544:p.Val16Met					NUP85_ENST00000449421.2_Intron|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.V16M	p.V16M	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		2	117	+	all_lung(278;0.14)|Lung NSC(278;0.168)		16					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.46G>A	CCDS32730.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.019	0.984383	0.18889	0.0	1.16E-4	ENSG00000125450	ENST00000245544	.	.	.	4.78	1.7	0.24286	.	0.775039	0.12437	N	0.469016	T	0.42653	0.1212	L	0.51422	1.61	0.80722	D	1	D	0.56035	0.974	B	0.40228	0.323	T	0.22977	-1.0201	9	0.38643	T	0.18	-15.5503	8.5431	0.33404	0.2464:0.0:0.7536:0.0	.	16	Q9BW27	NUP85_HUMAN	M	16	.	ENSP00000245544:V16M	V	+	1	0	NUP85	70716229	0.996000	0.38824	0.659000	0.29680	0.001000	0.01503	2.570000	0.45981	0.188000	0.20168	0.563000	0.77884	GTG		0.333	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		5	552	0	0	0	1	0	5	552				
KMT2E	55904	broad.mit.edu	37	7	104722169	104722174	+	In_Frame_Del	DEL	TTTATA	TTTATA	-			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr7:104722169_104722174delTTTATA	ENST00000311117.3	+	13	1828_1833	c.1283_1288delTTTATA	c.(1282-1290)ctttatatt>ctt	p.YI429del	KMT2E_ENST00000334877.4_In_Frame_Del_p.YI429del|KMT2E_ENST00000257745.4_In_Frame_Del_p.YI429del|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_In_Frame_Del_p.YI429del	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	429	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACCATACATCTTTATATTTATTCTAT	0.306																																						ENST00000334877.4																			0											c.(1282-1290)ctt>c		lysine (K)-specific methyltransferase 2E																																				SO:0001651	inframe_deletion	55904							g.chr7:104722169_104722174delTTTATA	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1283_1288delTTTATA	7.37:g.104722169_104722174delTTTATA	ENSP00000312379:p.Tyr429_Ile430del					KMT2E_ENST00000476671.1_In_Frame_Del_p.LYI428del|KMT2E_ENST00000257745.4_In_Frame_Del_p.LYI428del|KMT2E_ENST00000311117.3_In_Frame_Del_p.LYI428del|KMT2E_ENST00000334914.7_5'UTR	p.LYI428del							13	1817_1822	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	In_Frame_Del	DEL	ENST00000311117.3	37	c.1283_1288delTTTATA	CCDS34723.1																																																																																				0.306	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			20	166						20	166	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		9	12						9	12	---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27398748	27398749	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr11:27398748_27398749delTT	ENST00000379214.4	-	12	1508_1509	c.1065_1066delAA	c.(1063-1068)ataagafs	p.IR355fs	LGR4_ENST00000389858.4_Frame_Shift_Del_p.IR331fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	355					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGAAGGTCTCTTATATTATTGT	0.332																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1063-1068)atgafs		leucine-rich repeat containing G protein-coupled receptor 4																																				SO:0001589	frameshift_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27398748_27398749delTT	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1065_1066delAA	11.37:g.27398748_27398749delTT	ENSP00000368516:p.Ile355fs					LGR4_ENST00000389858.4_Frame_Shift_Del_p.IR331fs	p.IR355fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			12	1508_1509	-			355					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Frame_Shift_Del	DEL	ENST00000379214.4	37	c.1065_1066delAA	CCDS31449.1																																																																																				0.332	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		25	187						25	187	---	---	---	---
RP11-519G16.3	0	broad.mit.edu	37	15	45754101	45754103	+	RNA	DEL	CAC	CAC	-	rs556757486	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr15:45754101_45754103delCAC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000559960.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA																							atcacaccatcaccaccaccacc	0.571														6	0.00119808	0.0015	0.0	5008	,	,		20115	0.003		0.0	False		,,,				2504	0.001					ENST00000560077.1																			0																																																			0							g.chr15:45754101_45754103delCAC																													15.37:g.45754110_45754112delCAC						RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA								0	41	+									RNA	DEL	ENST00000560077.1	37																																																																																						0.571	RP11-519G16.3-005	KNOWN	basic	antisense	antisense	OTTHUMT00000416549.1			2	4						2	4	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		13	562						13	562	---	---	---	---
