#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		6	446	0	0	0	1	0	6	446				
DNAH11	8701	broad.mit.edu	37	7	21599227	21599227	+	Silent	SNP	G	G	A	rs373971291		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:21599227G>A	ENST00000409508.3	+	4	730	c.699G>A	c.(697-699)ccG>ccA	p.P233P	DNAH11_ENST00000328843.6_Silent_p.P233P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	233	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGGCCACCGTCAAACGAAA	0.308									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(697-699)ccG>ccA		dynein, axonemal, heavy chain 11		G		0,3650		0,0,1825	60.0	58.0	59.0		699	-3.4	0.0	7		59	1,8153		0,1,4076	no	coding-synonymous	DNAH11	NM_003777.3		0,1,5901	AA,AG,GG		0.0123,0.0,0.0085		233/4524	21599227	1,11803	1825	4077	5902	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21599227G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.699G>A	7.37:g.21599227G>A						DNAH11_ENST00000409508.3_Silent_p.P233P	p.P233P			Q96DT5	DYH11_HUMAN			4	730	+			233			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.699G>A																																																																																					0.308	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	129	0	0	0	1	0	14	129				
CDKN2A	1029	broad.mit.edu	37	9	21974704	21974704	+	Silent	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974704C>A	ENST00000304494.5	-	1	393	c.123G>T	c.(121-123)ccG>ccT	p.P41P	CDKN2A_ENST00000579122.1_Silent_p.P41P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Silent_p.P41P|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	41					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGTAACTATTCGGTGCGTTGG	0.697		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1340	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(121-123)ccG>ccT		cyclin-dependent kinase inhibitor 2A							46.0	56.0	52.0					9																	21974704		2202	4300	6502	SO:0001819	synonymous_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974704C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.123G>T	9.37:g.21974704C>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Silent_p.P41P|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000446177.1_Silent_p.P41P	p.P41P	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	393	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	41					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Silent	SNP	ENST00000304494.5	37	c.123G>T	CCDS6510.1																																																																																				0.697	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		260	158	1	0	3.24227e-129	1	3.53987e-129	260	158				
C5orf42	65250	broad.mit.edu	37	5	37187926	37187926	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:37187926C>A	ENST00000508244.1	-	21	3923	c.3830G>T	c.(3829-3831)tGt>tTt	p.C1277F	C5orf42_ENST00000274258.7_Missense_Mutation_p.C158F|C5orf42_ENST00000425232.2_Missense_Mutation_p.C1277F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1277						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACACAGAGCACAAAGTTCTCT	0.358																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(472-474)tGt>tTt		chromosome 5 open reading frame 42							81.0	77.0	78.0					5																	37187926		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37187926C>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3830G>T	5.37:g.37187926C>A	ENSP00000421690:p.Cys1277Phe					C5orf42_ENST00000508244.1_Missense_Mutation_p.C1277F|C5orf42_ENST00000425232.2_Missense_Mutation_p.C1277F	p.C158F			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		22	4060	-	all_lung(31;0.000616)		1277					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.473G>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644168	0.87859	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.75367	-0.77;-0.77;-0.93;-0.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	L	0.32530	0.975	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83156	-0.0101	10	0.87932	D	0	.	19.7365	0.96208	0.0:1.0:0.0:0.0	.	1277;158	E9PH94;Q9H799	.;CE042_HUMAN	F	1277;1277;158;325;158	ENSP00000421690:C1277F;ENSP00000389014:C1277F;ENSP00000274258:C158F;ENSP00000424223:C325F	ENSP00000274258:C158F	C	-	2	0	C5orf42	37223683	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.568000	0.73987	2.749000	0.94314	0.491000	0.48974	TGT		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		9	117	1	0	0.00621372	1	0.00621372	9	117				
L1CAM	3897	broad.mit.edu	37	X	153138054	153138054	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:153138054C>G	ENST00000370060.1	-	4	379	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	64	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					CACTGCACTTCGGGCTTGCCA	0.602																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(190-192)Gaa>Caa		L1 cell adhesion molecule							91.0	70.0	77.0					X																	153138054		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153138054C>G	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.190G>C	X.37:g.153138054C>G	ENSP00000359077:p.Glu64Gln					L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q	p.E64Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			4	379	-	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)		64			Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.190G>C	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329577	0.24167	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.69	1.83	0.25207	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182154	0.37095	N	0.002256	T	0.11196	0.0273	N	0.21240	0.645	0.09310	N	1	B;B;B	0.18741	0.03;0.008;0.01	B;B;B	0.30179	0.112;0.046;0.076	T	0.26849	-1.0091	10	0.35671	T	0.21	.	13.9763	0.64275	0.0:0.3682:0.6318:0.0	.	59;64;64	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	Q	64;66;64;66;59;59;64;64;59;59;64	ENSP00000359077:E64Q;ENSP00000438430:E66Q;ENSP00000359074:E64Q;ENSP00000439645:E66Q;ENSP00000354712:E59Q;ENSP00000359072:E59Q;ENSP00000355380:E64Q;ENSP00000402407:E64Q;ENSP00000384902:E59Q;ENSP00000392524:E59Q;ENSP00000396079:E64Q	ENSP00000355380:E64Q	E	-	1	0	L1CAM	152791248	0.001000	0.12720	0.195000	0.23364	0.913000	0.54294	-0.399000	0.07250	0.066000	0.16515	0.529000	0.55759	GAA		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		64	146	0	0	0	1	0	64	146				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864001A>G																													13.37:g.52864001A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			6	131	0	0	0	1	0	6	131				
ACSM2B	348158	broad.mit.edu	37	16	20566614	20566614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:20566614C>T	ENST00000329697.6	-	4	741	c.573G>A	c.(571-573)tgG>tgA	p.W191*	ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W112*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	191					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGAAGTTCAGCCACCCATCGC	0.443																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(571-573)tgG>tgA		acyl-CoA synthetase medium-chain family member 2B							243.0	229.0	234.0					16																	20566614		2201	4300	6501	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20566614C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.573G>A	16.37:g.20566614C>T	ENSP00000327453:p.Trp191*					ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W112*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.W191*	p.W191*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			4	741	-			191					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.573G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	39	7.660205	0.98419	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	.	.	.	3.11	2.13	0.27403	.	0.000000	0.41605	D	0.000844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5735	10.4961	0.44778	0.1964:0.8036:0.0:0.0	.	.	.	.	X	191	.	ENSP00000327453:W191X	W	-	3	0	ACSM2B	20474115	1.000000	0.71417	0.988000	0.46212	0.752000	0.42762	4.073000	0.57570	0.618000	0.30179	0.609000	0.83330	TGG		0.443	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		8	904	0	0	0	1	0	8	904				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	482	0	0	0	1	0	5	482				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			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.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	374	1	0	4.7546e-09	1	4.9518e-09	11	374				
RNF39	80352	broad.mit.edu	37	6	30043491	30043491	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:30043491C>T	ENST00000244360.6	-	1	173	c.76G>A	c.(76-78)Gca>Aca	p.A26T	RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	26						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TTAACTTTTGCCGCTTTCCGC	0.602																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(76-78)Gca>Aca		ring finger protein 39							51.0	53.0	53.0					6																	30043491		2203	4300	6503	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043491C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.76G>A	6.37:g.30043491C>T	ENSP00000244360:p.Ala26Thr					RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			1	173	-			26					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.76G>A	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	17.05	3.290422	0.59976	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.70749	-0.03;-0.51	3.51	0.223	0.15292	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.17137	-1.0379	9	0.66056	D	0.02	.	2.3362	0.04248	0.1257:0.4139:0.293:0.1674	.	26;26	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	T	26	ENSP00000365942:A26T;ENSP00000244360:A26T	ENSP00000244360:A26T	A	-	1	0	RNF39	30151470	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-0.148000	0.10219	0.251000	0.21505	0.436000	0.28706	GCA		0.602	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		5	372	0	0	0	1	0	5	372				
KIAA1210	57481	broad.mit.edu	37	X	118284525	118284525	+	Silent	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:118284525C>A	ENST00000402510.2	-	1	17	c.18G>T	c.(16-18)acG>acT	p.T6T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	6								p.T6T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGCCTCGAGGCGTCCAGCCGG	0.652																																						ENST00000402510.2																			1	Substitution - coding silent(1)	p.T6T(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(16-18)acG>acT		KIAA1210							57.0	66.0	63.0					X																	118284525		2017	4144	6161	SO:0001819	synonymous_variant	57481							g.chrX:118284525C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.18G>T	X.37:g.118284525C>A							p.T6T	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			1	17	-			6					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.18G>T	CCDS48156.1																																																																																				0.652	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		129	66	1	0	7.61991e-58	1	8.27933e-58	129	66				
TDG	6996	broad.mit.edu	37	12	104377099	104377099	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:104377099G>T	ENST00000392872.3	+	7	958	c.724G>T	c.(724-726)Gtt>Ttt	p.V242F	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.V38F|TDG_ENST00000544861.1_Missense_Mutation_p.V99F|TDG_ENST00000266775.9_Missense_Mutation_p.V238F	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	242					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TAGTAAAGAAGTTTTTGGAGT	0.284								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(724-726)Gtt>Ttt	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							46.0	49.0	48.0					12																	104377099		2167	4277	6444	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104377099G>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.724G>T	12.37:g.104377099G>T	ENSP00000376611:p.Val242Phe					TDG_ENST00000266775.9_Missense_Mutation_p.V238F|TDG_ENST00000542036.1_Missense_Mutation_p.V38F|TDG_ENST00000544861.1_Missense_Mutation_p.V99F	p.V242F	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	7	958	+			242					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.724G>T	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539433	0.65085	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100;ENST00000542036	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.92;0.92	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.258187	0.39083	N	0.001468	T	0.55737	0.1939	N	0.25380	0.74	0.40131	D	0.976715	D;P;B	0.71674	0.998;0.934;0.233	P;P;B	0.60789	0.879;0.545;0.151	T	0.59804	-0.7385	10	0.62326	D	0.03	-28.8349	12.5149	0.56026	0.0764:0.0:0.9236:0.0	.	38;242;242	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	F	242;238;99;235;38	ENSP00000376611:V242F;ENSP00000266775:V238F;ENSP00000445899:V99F;ENSP00000439825:V235F;ENSP00000439054:V38F	ENSP00000266775:V238F	V	+	1	0	TDG	102901229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.522000	0.45572	2.518000	0.84900	0.563000	0.77884	GTT		0.284	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			16	455	1	0	1.67942e-08	1	1.74105e-08	16	455				
KIR3DX1	90011	broad.mit.edu	37	19	55048290	55048290	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55048290C>T	ENST00000335056.3	+	5	895	c.857C>T	c.(856-858)aCg>aTg	p.T286M	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	286	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGCCGTGCAACGCCAGTCCCT	0.562																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(856-858)aCg>aTg									92.0	90.0	91.0					19																	55048290		1942	4147	6089	SO:0001583	missense	0							g.chr19:55048290C>T	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.857C>T	19.37:g.55048290C>T	ENSP00000335388:p.Thr286Met					KIR3DX1_ENST00000482404.1_3'UTR	p.T286M						GBM - Glioblastoma multiforme(193;0.099)	5	895	+								B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37	c.857C>T		.	.	.	.	.	.	.	.	.	.	c	3.085	-0.188251	0.06299	.	.	ENSG00000104970	ENST00000335056	T	0.03801	3.8	1.79	-3.58	0.04597	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03564	0.0102	.	.	.	0.09310	N	1	P	0.36974	0.576	B	0.34301	0.179	T	0.19418	-1.0306	8	0.72032	D	0.01	.	4.1502	0.10234	0.0:0.2279:0.3523:0.4198	.	286	Q9H7L2	KI3X1_HUMAN	M	286	ENSP00000335388:T286M	ENSP00000221567:T286M	T	+	2	0	KIR3DX1	59740102	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.835000	0.00180	-1.702000	0.01411	-1.605000	0.00808	ACG		0.562	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		159	498	0	0	0	1	0	159	498				
NUP205	23165	broad.mit.edu	37	7	135304378	135304378	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:135304378A>G	ENST00000285968.6	+	29	4197	c.4171A>G	c.(4171-4173)Att>Gtt	p.I1391V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1391					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTTGCTTCTATTGGAGATTC	0.368																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4171-4173)Att>Gtt		nucleoporin 205kDa							59.0	59.0	59.0					7																	135304378		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135304378A>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4171A>G	7.37:g.135304378A>G	ENSP00000285968:p.Ile1391Val						p.I1391V	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			29	4197	+			1391					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4171A>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	6.227	0.410051	0.11812	.	.	ENSG00000155561	ENST00000285968	T	0.29142	1.58	5.67	2.02	0.26589	.	0.133675	0.64402	N	0.000002	T	0.12347	0.0300	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14755	-1.0461	10	0.14656	T	0.56	-22.4023	6.4248	0.21764	0.6149:0.1191:0.266:0.0	.	1391	Q92621	NU205_HUMAN	V	1391	ENSP00000285968:I1391V	ENSP00000285968:I1391V	I	+	1	0	NUP205	134954918	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	4.161000	0.58170	0.107000	0.17824	0.397000	0.26171	ATT		0.368	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			13	162	0	0	0	1	0	13	162				
PSME4	23198	broad.mit.edu	37	2	54133825	54133825	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:54133825C>T	ENST00000404125.1	-	26	2908	c.2853G>A	c.(2851-2853)cgG>cgA	p.R951R	PSME4_ENST00000421748.2_Silent_p.R95R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	951					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAGTTAGTGTCCGTAGCTAAG	0.308																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2851-2853)cgG>cgA		proteasome (prosome, macropain) activator subunit 4							123.0	122.0	122.0					2																	54133825		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54133825C>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2853G>A	2.37:g.54133825C>T						PSME4_ENST00000421748.2_Silent_p.R95R	p.R951R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		26	2908	-			951					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.2853G>A	CCDS33197.2																																																																																				0.308	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		14	370	0	0	0	1	0	14	370				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		11	92	0	0	0	1	0	11	92				
CNGB1	1258	broad.mit.edu	37	16	57945695	57945695	+	Silent	SNP	G	G	A	rs528283367		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57945695G>A	ENST00000251102.8	-	25	2514	c.2454C>T	c.(2452-2454)ctC>ctT	p.L818L	CNGB1_ENST00000564448.1_Silent_p.L812L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	818					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAGTGGAGCCGAGGCCCTGAT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20647	0.0		0.001	False		,,,				2504	0.0				Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2434-2436)ctC>ctT		cyclic nucleotide gated channel beta 1							56.0	58.0	57.0					16																	57945695		1958	4152	6110	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57945695G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2454C>T	16.37:g.57945695G>A						CNGB1_ENST00000251102.8_Silent_p.L818L	p.L812L			Q14028	CNGB1_HUMAN			25	2496	-			818					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.2436C>T	CCDS42169.1																																																																																				0.547	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		85	171	0	0	0	1	0	85	171				
KRT6A	3853	broad.mit.edu	37	12	52881586	52881586	+	Missense_Mutation	SNP	C	C	G	rs200198490		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:52881586C>G	ENST00000330722.6	-	9	1681	c.1613G>C	c.(1612-1614)gGc>gCc	p.G538A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	538	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCTGAGGCCACCCCCAAT	0.577																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1612-1614)gGc>gCc		keratin 6A							75.0	84.0	81.0					12																	52881586		2203	4298	6501	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52881586C>G	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1613G>C	12.37:g.52881586C>G	ENSP00000369317:p.Gly538Ala						p.G538A	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1681	-			538			Tail.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1613G>C	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	12.31	1.900672	0.33535	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.91124	-2.79	4.58	3.67	0.42095	.	0.000000	0.46758	D	0.000262	D	0.89536	0.6743	M	0.85542	2.76	0.30471	N	0.773342	B	0.29378	0.243	B	0.28991	0.097	T	0.82906	-0.0225	10	0.13108	T	0.6	.	12.0413	0.53454	0.0:0.8481:0.0:0.1519	.	538	P02538	K2C6A_HUMAN	A	538;494	ENSP00000369317:G538A	ENSP00000369317:G538A	G	-	2	0	KRT6A	51167853	0.213000	0.23551	0.995000	0.50966	0.991000	0.79684	3.180000	0.50895	1.206000	0.43276	0.650000	0.86243	GGC		0.577	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		6	338	0	0	0	1	0	6	338				
GPR3	2827	broad.mit.edu	37	1	27720926	27720926	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:27720926C>T	ENST00000374024.3	+	2	723	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	208					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TGTTTGGCATCATGCTGCAGC	0.577																																						ENST00000374024.3																			0				endometrium(3)|lung(3)|ovary(1)|skin(1)	8						c.(622-624)atC>atT		G protein-coupled receptor 3							214.0	185.0	195.0					1																	27720926		2203	4300	6503	SO:0001819	synonymous_variant	2827				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		g.chr1:27720926C>T	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.624C>T	1.37:g.27720926C>T							p.I208I	NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)	2	723	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	208					A8K570	Silent	SNP	ENST00000374024.3	37	c.624C>T	CCDS303.1																																																																																				0.577	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		14	428	0	0	0	1	0	14	428				
THSD7B	80731	broad.mit.edu	37	2	138400061	138400061	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:138400061G>A	ENST00000409968.1	+	21	3981	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1270	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTAGGTCGAATGAGCCGG	0.478																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3802-3804)cGa>cAa		thrombospondin, type I, domain containing 7B							121.0	118.0	119.0					2																	138400061		1894	4125	6019	SO:0001583	missense	80731							g.chr2:138400061G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3803G>A	2.37:g.138400061G>A	ENSP00000387145:p.Arg1268Gln					THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q|THSD7B_ENST00000543459.1_Intron	p.R1268Q						BRCA - Breast invasive adenocarcinoma(221;0.19)	21	3981	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3803G>A		.	.	.	.	.	.	.	.	.	.	G	11.34	1.609124	0.28623	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.51325	0.71;0.71;0.71	5.29	-0.929	0.10444	.	1.100800	0.06637	N	0.760367	T	0.21103	0.0508	N	0.03281	-0.365	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46582	-0.9181	10	0.02654	T	1	.	10.7598	0.46258	0.6294:0.0:0.3706:0.0	.	1240	C9JKN6	.	Q	1268;1271;1240	ENSP00000387145:R1268Q;ENSP00000272643:R1271Q;ENSP00000413841:R1240Q	ENSP00000272643:R1271Q	R	+	2	0	THSD7B	138116531	0.970000	0.33590	0.992000	0.48379	0.992000	0.81027	-0.041000	0.12084	-0.106000	0.12110	-0.258000	0.10820	CGA		0.478	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		158	352	0	0	0	1	0	158	352				
PGF	5228	broad.mit.edu	37	14	75416111	75416111	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:75416111G>A	ENST00000405431.2	-	3	263	c.264C>T	c.(262-264)ggC>ggT	p.G88G	PGF_ENST00000555567.1_Silent_p.G88G|PGF_ENST00000553716.1_Silent_p.G88G|PGF_ENST00000238607.6_Silent_p.G87G			P49763	PLGF_HUMAN	placental growth factor	88					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	GATTCTCATCGCCGCAGCAGC	0.632																																					GBM(127;389 2301 5452 48547)	ENST00000555567.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(262-264)ggC>ggT		placental growth factor							68.0	57.0	61.0					14																	75416111		2203	4300	6503	SO:0001819	synonymous_variant	5228				angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding	g.chr14:75416111G>A	S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.264C>T	14.37:g.75416111G>A						PGF_ENST00000238607.6_Silent_p.G87G|PGF_ENST00000405431.2_Silent_p.G88G|PGF_ENST00000553716.1_Silent_p.G88G	p.G88G	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00668)	3	805	-			88					Q07101|Q9BV78|Q9Y6S8	Silent	SNP	ENST00000405431.2	37	c.264C>T	CCDS9835.1																																																																																				0.632	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632		12	240	0	0	0	1	0	12	240				
PRG4	10216	broad.mit.edu	37	1	186276052	186276052	+	Missense_Mutation	SNP	A	A	C	rs542620960	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:186276052A>C	ENST00000445192.2	+	7	1246	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T401P(4)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.642													-|||	12	0.00239617	0.0083	0.0014	5008	,	,		8994	0.0		0.0	False		,,,				2504	0.0					ENST00000445192.2																			5	Substitution - Missense(4)|Complex(1)	p.T401P(4)|p.T400>?(1)	kidney(2)|prostate(1)|lung(1)|endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1201-1203)Acc>Ccc		proteoglycan 4							95.0	89.0	91.0					1																	186276052		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276052A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1201A>C	1.37:g.186276052A>C	ENSP00000399679:p.Thr401Pro					PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P	p.T401P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1246	+			401			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1201A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	3.851	-0.031771	0.07543	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05258	3.54;3.65;3.61;3.47;3.64	3.17	-6.34	0.01982	.	.	.	.	.	T	0.02649	0.0080	N	0.13140	0.3	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.46034	-0.9220	8	.	.	.	.	3.639	0.08160	0.4008:0.398:0.0956:0.1055	.	267;308;401;360	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	358;360;267;360;308;401	ENSP00000356456:T358P;ENSP00000356454:T360P;ENSP00000356453:T360P;ENSP00000356455:T308P;ENSP00000399679:T401P	.	T	+	1	0	PRG4	184542675	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.209000	0.09358	-1.096000	0.03046	-2.716000	0.00133	ACC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		15	467	0	0	0	1	0	15	467				
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378																																						ENST00000545588.1																			3	Substitution - Nonsense(3)	p.S805*(3)	endometrium(2)|lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2413-2415)tCa>tGa		zinc finger CCCH-type containing 11A																																				SO:0001587	stop_gained	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821508C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2414C>G	1.37:g.203821508C>G	ENSP00000438527:p.Ser805*					ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*	p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6241	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		805					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP	ENST00000545588.1	37	c.2414C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	40	8.446087	0.98815	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.9	4.99	0.66335	.	0.140252	0.49916	D	0.000132	.	.	.	.	.	.	0.45172	D	0.998181	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.7509	15.4578	0.75330	0.14:0.86:0.0:0.0	.	.	.	.	X	805;751;805;805;805;805	.	ENSP00000333253:S805X	S	+	2	0	ZC3H11A	202088131	1.000000	0.71417	0.920000	0.36463	0.858000	0.48976	6.206000	0.72154	1.492000	0.48499	-0.175000	0.13238	TCA		0.378	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		4	281	0	0	0	1	0	4	281				
TP53BP2	7159	broad.mit.edu	37	1	223986037	223986037	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:223986037C>T	ENST00000343537.7	-	12	2119	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	TP53BP2_ENST00000391878.2_Missense_Mutation_p.V481M|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	604					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTTGCTGCCACGGTCTGGGGT	0.527																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1441-1443)Gtg>Atg		tumor protein p53 binding protein, 2							114.0	119.0	117.0					1																	223986037		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223986037C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1828G>A	1.37:g.223986037C>T	ENSP00000341957:p.Val610Met					TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Missense_Mutation_p.V610M	p.V481M	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2209	-			604					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.1441G>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229638	0.79688	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.56941	0.43;0.62	5.88	5.88	0.94601	.	0.055023	0.64402	D	0.000001	T	0.67477	0.2897	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.85130	0.997;0.49	T	0.61352	-0.7080	10	0.33940	T	0.23	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	610;604	B4DG66;Q13625	.;ASPP2_HUMAN	M	481;610	ENSP00000375750:V481M;ENSP00000341957:V610M	ENSP00000341957:V610M	V	-	1	0	TP53BP2	222052660	0.997000	0.39634	0.966000	0.40874	0.972000	0.66771	3.655000	0.54460	2.782000	0.95742	0.655000	0.94253	GTG		0.527	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		30	756	0	0	0	1	0	30	756				
FAM135B	51059	broad.mit.edu	37	8	139165088	139165088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:139165088C>A	ENST00000395297.1	-	13	1800	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	544										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTCCATCCTCTGGACCTGGA	0.512										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1630-1632)Gag>Tag		family with sequence similarity 135, member B							79.0	77.0	78.0					8																	139165088		1949	4157	6106	SO:0001587	stop_gained	51059							g.chr8:139165088C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1630G>T	8.37:g.139165088C>A	ENSP00000378710:p.Glu544*	HNSCC(54;0.14)					p.E544*	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1800	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		544					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.1630G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	40	8.288310	0.98745	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.45	4.57	0.56435	.	0.787170	0.12180	N	0.492215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-4.7828	13.4045	0.60903	0.0:0.9248:0.0:0.0752	.	.	.	.	X	544	.	ENSP00000276737:E544X	E	-	1	0	FAM135B	139234270	0.116000	0.22171	0.386000	0.26170	0.934000	0.57294	1.547000	0.36190	1.446000	0.47643	0.655000	0.94253	GAG		0.512	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		22	238	1	0	1.2644e-06	1	1.28719e-06	22	238				
FOLH1	2346	broad.mit.edu	37	11	49221961	49221961	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49221961G>C	ENST00000256999.2	-	3	517	c.257C>G	c.(256-258)aCa>aGa	p.T86R	FOLH1_ENST00000340334.7_Missense_Mutation_p.T71R|FOLH1_ENST00000356696.3_Missense_Mutation_p.T86R|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.T71R	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	86					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GTTTTGTTCTGTTCCTGCTAA	0.348																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(211-213)aCa>aGa		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						73.0	74.0	74.0					11																	49221961		2201	4296	6497	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49221961G>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.257C>G	11.37:g.49221961G>C	ENSP00000256999:p.Thr86Arg					FOLH1_ENST00000256999.2_Missense_Mutation_p.T86R|FOLH1_ENST00000533034.1_Missense_Mutation_p.T71R|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.T86R	p.T71R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			4	580	-			86					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.212C>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161035	0.78226	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724;ENST00000529117	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.78	4.78	0.61160	.	0.000000	0.56097	D	0.000031	T	0.73606	0.3608	M	0.90019	3.08	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.943;0.997;0.997	D;D;P;D;D	0.97110	1.0;1.0;0.791;0.964;0.962	T	0.78499	-0.2180	10	0.52906	T	0.07	.	15.3468	0.74343	0.0:0.0:1.0:0.0	.	71;71;71;86;86	Q04609-9;Q04609-7;A4UU13;Q04609-8;Q04609	.;.;.;.;FOLH1_HUMAN	R	86;86;71;71;86;29	ENSP00000256999:T86R;ENSP00000349129:T86R;ENSP00000344131:T71R;ENSP00000431463:T71R;ENSP00000431577:T29R	ENSP00000256999:T86R	T	-	2	0	FOLH1	49178537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.854000	0.75440	2.496000	0.84212	0.508000	0.49915	ACA		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		8	156	0	0	0	1	0	8	156				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	292	0	0	0	1	0	6	292				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral component of membrane (GO:0016021)		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.H92P(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(274-276)cAc>cCc		histidine rich carboxyl terminus 1							24.0	19.0	20.0					9																	35906559		2189	4276	6465	SO:0001583	missense	646962					integral to membrane		g.chr9:35906559A>C		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.275A>C	9.37:g.35906559A>C	ENSP00000346283:p.His92Pro						p.H92P	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	371	+			92			His-rich.		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.275A>C	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	A	6.244	0.413193	0.11812	.	.	ENSG00000196196	ENST00000354323	.	.	.	2.44	-4.88	0.03113	.	2.969780	0.02194	N	0.061627	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12682	-1.0538	9	0.87932	D	0	-35.0854	0.2739	0.00235	0.2845:0.1811:0.2905:0.2438	.	92	Q6UXD1	HRCT1_HUMAN	P	92	.	ENSP00000346283:H92P	H	+	2	0	HRCT1	35896559	0.200000	0.23398	0.000000	0.03702	0.183000	0.23260	0.845000	0.27668	-1.085000	0.03088	0.383000	0.25322	CAC		0.682	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		17	31	0	0	0	1	0	17	31				
RAG1	5896	broad.mit.edu	37	11	36595176	36595176	+	Nonsense_Mutation	SNP	C	C	T	rs193922464		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36595176C>T	ENST00000299440.5	+	2	434	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	108	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGCCAACCTTCGACATCTCTG	0.463									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(322-324)Cga>Tga		recombination activating gene 1		C	stop/ARG	0,4404		0,0,2202	109.0	104.0	106.0		322	3.2	0.7	11		106	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained	RAG1	NM_000448.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		108/1044	36595176	1,12999	2202	4298	6500	SO:0001587	stop_gained	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595176C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.322C>T	11.37:g.36595176C>T	ENSP00000299440:p.Arg108*						p.R108*	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	434	+	all_lung(20;0.226)	all_hematologic(20;0.107)	108			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	37	c.322C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280336	0.59758	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	6.14	3.2	0.36748	.	0.352416	0.29522	N	0.011917	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.0601	0.42270	0.3752:0.5616:0.0:0.0632	.	.	.	.	X	108	.	ENSP00000299440:R108X	R	+	1	2	RAG1	36551752	.	.	0.743000	0.31040	0.340000	0.28889	.	.	0.439000	0.26476	-0.156000	0.13503	CGA		0.463	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		146	224	0	0	0	1	0	146	224				
ZNF543	125919	broad.mit.edu	37	19	57839619	57839619	+	Silent	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:57839619T>C	ENST00000321545.4	+	4	1134	c.789T>C	c.(787-789)gcT>gcC	p.A263A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAGGCTTTTAACCGCA	0.522																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(787-789)gcT>gcC		zinc finger protein 543							67.0	66.0	66.0					19																	57839619		2203	4300	6503	SO:0001819	synonymous_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839619T>C	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.789T>C	19.37:g.57839619T>C							p.A263A	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1134	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	263					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	ENST00000321545.4	37	c.789T>C	CCDS33130.1																																																																																				0.522	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		5	463	0	0	0	1	0	5	463				
PLEKHH2	130271	broad.mit.edu	37	2	43937444	43937444	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:43937444G>T	ENST00000282406.4	+	13	2299	c.2189G>T	c.(2188-2190)gGt>gTt	p.G730V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	730	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.			G -> C (in Ref. 1; CAI46132). {ECO:0000305}.	negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTAAAGGTGGTGAATTACTT	0.363																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2188-2190)gGt>gTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							112.0	125.0	121.0					2																	43937444		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937444G>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2189G>T	2.37:g.43937444G>T	ENSP00000282406:p.Gly730Val						p.G730V	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			13	2299	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	730	G -> C (in Ref. 1; CAI46132).		PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2189G>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832003	0.71258	.	.	ENSG00000152527	ENST00000282406	T	0.76578	-1.03	5.02	4.11	0.48088	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.056676	0.64402	D	0.000001	D	0.88429	0.6434	M	0.82433	2.59	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;1.0;0.999	D	0.90058	0.4154	10	0.87932	D	0	-10.151	15.0911	0.72195	0.0:0.1426:0.8574:0.0	.	730;167;730	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	V	730	ENSP00000282406:G730V	ENSP00000282406:G730V	G	+	2	0	PLEKHH2	43790948	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.354000	0.73036	1.043000	0.40175	0.563000	0.77884	GGT		0.363	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		108	376	1	0	1.15365e-47	1	1.24748e-47	108	376				
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:31237922G>C	ENST00000407793.2	+	5	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_ENST00000228264.6_Missense_Mutation_p.R141T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000251758.5_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	167	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R167T(11)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			11	Substitution - Missense(11)	p.R167T(11)	lung(6)|kidney(2)|large_intestine(1)|prostate(1)|central_nervous_system(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(499-501)aGa>aCa		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							18.0	20.0	19.0					12																	31237922		2203	4299	6502	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31237922G>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.500G>C	12.37:g.31237922G>C	ENSP00000384703:p.Arg167Thr	Multiple Myeloma(12;0.14)				DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T	p.R167T			Q96FC9	DDX11_HUMAN			5	751	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		167			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.500G>C	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.810541	0.00600	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.59224	4.17;4.17;4.17;4.17;0.28;4.17;4.17;4.17	3.87	0.233	0.15386	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.241085	0.41938	N	0.000785	T	0.18635	0.0447	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.12430	T	0.62	.	5.1988	0.15252	0.0:0.4995:0.1963:0.3042	.	167;167;167;167	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	T	167;167;167;141;138;141;167;167	ENSP00000443426:R167T;ENSP00000384703:R167T;ENSP00000251758:R167T;ENSP00000228264:R141T;ENSP00000407646:R138T;ENSP00000406457:R141T;ENSP00000440402:R167T;ENSP00000309965:R167T	ENSP00000228264:R141T	R	+	2	0	DDX11	31129189	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.680000	0.25306	-0.264000	0.09365	-1.993000	0.00448	AGA		0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		5	59	0	0	0	1	0	5	59				
NCKAP5	344148	broad.mit.edu	37	2	133540781	133540781	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:133540781G>A	ENST00000409261.1	-	14	3976	c.3603C>T	c.(3601-3603)atC>atT	p.I1201I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.I1201I|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1201										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACCCGCTGTGATCTCCATGC	0.478																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3601-3603)atC>atT		NCK-associated protein 5							85.0	84.0	84.0					2																	133540781		1949	4148	6097	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540781G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3603C>T	2.37:g.133540781G>A						NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.I1201I	p.I1201I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3976	-			1201					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.3603C>T	CCDS46418.1																																																																																				0.478	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		44	224	0	0	0	1	0	44	224				
FMNL3	91010	broad.mit.edu	37	12	50044493	50044493	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:50044493G>A	ENST00000293590.5	-	17	2199	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C|FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C|FMNL3_ENST00000335154.5_Missense_Mutation_p.R656C			Q8IVF7	FMNL3_HUMAN	formin-like 3	656	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCAGCCGAGCGGCCAGCCTTG	0.582																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1966-1968)Cgc>Tgc		formin-like 3							101.0	98.0	99.0					12																	50044493		2051	4215	6266	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50044493G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1966C>T	12.37:g.50044493G>A	ENSP00000293590:p.Arg656Cys					FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656C|FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C	p.R656C	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			17	2199	-			656			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1966C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.085302	0.76642	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.12	5.12	0.69794	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.050640	0.64402	D	0.000001	T	0.24774	0.0601	L	0.27053	0.805	0.53688	D	0.999977	D;D;D	0.76494	0.998;0.996;0.999	D;P;P	0.64042	0.921;0.736;0.848	T	0.00383	-1.1774	10	0.51188	T	0.08	.	11.2905	0.49247	0.0:0.0:0.72:0.28	.	605;656;656	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	C	656;656;605;656	ENSP00000335655:R656C;ENSP00000447479:R656C;ENSP00000344311:R605C;ENSP00000293590:R656C	ENSP00000293590:R656C	R	-	1	0	FMNL3	48330760	0.983000	0.35010	1.000000	0.80357	0.980000	0.70556	1.336000	0.33850	2.834000	0.97654	0.650000	0.86243	CGC		0.582	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		50	186	0	0	0	1	0	50	186				
PER2	8864	broad.mit.edu	37	2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.A86T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383																																						ENST00000254657.3																			1	Substitution - Missense(1)	p.A86T(1)	urinary_tract(1)	NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(256-258)Gca>Aca		period circadian clock 2							227.0	239.0	235.0					2																	239185809		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239185809C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.256G>A	2.37:g.239185809C>T	ENSP00000254657:p.Ala86Thr					PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T	p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	3	535	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	86					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.256G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	0.421	-0.908299	0.02434	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.53423	2.72;0.68;1.71;0.68;0.62	4.96	2.12	0.27331	.	0.345872	0.34110	N	0.004259	T	0.34308	0.0893	L	0.34521	1.04	0.20074	N	0.999938	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.12837	0.008;0.001;0.005;0.001	T	0.18053	-1.0349	10	0.31617	T	0.26	-1.2378	11.0032	0.47618	0.0:0.7639:0.0:0.2361	.	86;86;86;86	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	T	86	ENSP00000254657:A86T;ENSP00000254658:A86T;ENSP00000397516:A86T;ENSP00000348013:A86T;ENSP00000405891:A86T	ENSP00000254657:A86T	A	-	1	0	PER2	238850548	0.693000	0.27728	0.002000	0.10522	0.041000	0.13682	0.717000	0.25851	-0.004000	0.14419	-0.797000	0.03246	GCA		0.383	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		9	1564	0	0	0	1	0	9	1564				
CCL24	6369	broad.mit.edu	37	7	75441265	75441265	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:75441265C>T	ENST00000416943.1	-	4	302	c.209G>A	c.(208-210)gGc>gAc	p.G70D	CCL24_ENST00000222902.2_Missense_Mutation_p.G70D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	70					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						GAACTGCTGGCCCTTCTTGGT	0.612																																						ENST00000416943.1																			0				endometrium(1)|lung(2)	3						c.(208-210)gGc>gAc		chemokine (C-C motif) ligand 24							83.0	69.0	74.0					7																	75441265		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75441265C>T	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"""Chemokine ligands"", ""Endogenous ligands"""	10623	protein-coding gene	gene with protein product	"""CK-beta-6"", ""myeloid progenitor inhibitory factor 2"", ""eotaxin-2"""	602495	"""small inducible cytokine subfamily A (Cys-Cys), member 24"""	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.209G>A	7.37:g.75441265C>T	ENSP00000400533:p.Gly70Asp					CCL24_ENST00000222902.2_Missense_Mutation_p.G70D	p.G70D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN			4	302	-			70					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.209G>A	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	C	9.453	1.091082	0.20471	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.05925	3.37;3.37	4.15	3.26	0.37387	Chemokine interleukin-8-like domain (3);	0.680432	0.13196	N	0.406384	T	0.08670	0.0215	L	0.61036	1.89	0.27743	N	0.944416	B	0.29716	0.255	B	0.30716	0.119	T	0.15235	-1.0444	10	0.36615	T	0.2	.	8.3206	0.32126	0.0:0.8859:0.0:0.1141	.	70	O00175	CCL24_HUMAN	D	70	ENSP00000222902:G70D;ENSP00000400533:G70D	ENSP00000222902:G70D	G	-	2	0	CCL24	75279201	0.659000	0.27411	0.245000	0.24217	0.370000	0.29829	1.945000	0.40273	0.862000	0.35528	0.555000	0.69702	GGC		0.612	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		6	255	0	0	0	1	0	6	255				
CUBN	8029	broad.mit.edu	37	10	16877170	16877170	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:16877170G>A	ENST00000377833.4	-	64	10270	c.10205C>T	c.(10204-10206)gCa>gTa	p.A3402V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3402	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGCCAAATGCCTTGTGATA	0.438																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10204-10206)gCa>gTa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						131.0	118.0	123.0					10																	16877170		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877170G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10205C>T	10.37:g.16877170G>A	ENSP00000367064:p.Ala3402Val						p.A3402V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			64	10270	-			3402			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10205C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	6.678	0.493742	0.12702	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.19105	2.17	4.84	2.92	0.33932	CUB (5);	0.738516	0.11552	N	0.552718	T	0.24236	0.0587	L	0.47716	1.5	0.24037	N	0.996099	P	0.40360	0.714	B	0.43990	0.438	T	0.10291	-1.0636	10	0.30854	T	0.27	.	11.3802	0.49752	0.0:0.1371:0.7202:0.1427	.	3402	O60494	CUBN_HUMAN	V	3402;243	ENSP00000367064:A3402V	ENSP00000367064:A3402V	A	-	2	0	CUBN	16917176	0.660000	0.27420	0.004000	0.12327	0.008000	0.06430	2.533000	0.45667	0.593000	0.29745	-0.314000	0.08810	GCA		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		43	324	0	0	0	1	0	43	324				
ZNF37BP	100129482	broad.mit.edu	37	10	43019068	43019068	+	RNA	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:43019068A>G	ENST00000452075.3	-	0	886					NR_026777.1				zinc finger protein 37B, pseudogene																		ACCTACTGAGACAAGGTGGCT	0.438																																						ENST00000473592.1																			0																																																			0							g.chr10:43019068A>G	AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43019068A>G														0	2491	-									RNA	SNP	ENST00000452075.3	37																																																																																						0.438	ZNF37BP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047675.2	NR_026777		69	232	0	0	0	1	0	69	232				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905279	74905279	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:74905279G>A	ENST00000370899.3	+	22	2324	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E776K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E763K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TCTCACTGGCGAAATTCCATT	0.438																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2287-2289)Gaa>Aaa		TNNI3 interacting kinase							135.0	115.0	122.0					1																	74905279		2203	4300	6503	SO:0001583	missense	51086							g.chr1:74905279G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2287G>A	1.37:g.74905279G>A	ENSP00000359936:p.Glu763Lys					TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E763K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K	p.E763K	NM_001112808.2	NP_001106279.1					22	2303	+									Missense_Mutation	SNP	ENST00000370899.3	37	c.2287G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.077222	0.76415	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.87	4.02	0.46733	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050658	0.85682	N	0.000000	T	0.72566	0.3476	N	0.13098	0.295	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.64877	0.93;0.92;0.885	T	0.72421	-0.4299	10	0.23302	T	0.38	.	12.1528	0.54059	0.1371:0.0:0.8629:0.0	.	662;763;763	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	K	763;763;763;662	ENSP00000359936:E763K;ENSP00000450895:E763K;ENSP00000359928:E763K;ENSP00000322251:E662K	ENSP00000322251:E662K	E	+	1	0	RP11-653A5.2;AC093158.1	74677867	1.000000	0.71417	0.683000	0.30040	0.969000	0.65631	6.146000	0.71777	0.839000	0.34971	0.484000	0.47621	GAA		0.438	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			24	469	0	0	0	1	0	24	469				
DLGAP2	9228	broad.mit.edu	37	8	1645335	1645335	+	Missense_Mutation	SNP	C	C	T	rs373082856		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:1645335C>T	ENST00000421627.2	+	11	2713	c.2579C>T	c.(2578-2580)cCg>cTg	p.P860L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	939					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ATGCCGAGGCCGACGTCGCAG	0.667																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2578-2580)cCg>cTg		discs, large (Drosophila) homolog-associated protein 2		C	LEU/PRO	0,4008		0,0,2004	23.0	28.0	26.0		2579	4.9	0.1	8		26	2,8302		0,2,4150	no	missense	DLGAP2	NM_004745.3	98	0,2,6154	TT,TC,CC		0.0241,0.0,0.0162	probably-damaging	860/976	1645335	2,12310	2004	4152	6156	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1645335C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2579C>T	8.37:g.1645335C>T	ENSP00000400258:p.Pro860Leu						p.P860L	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	11	2713	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	939					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2579C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.766620|3.766620	0.69878|0.69878	0.0|0.0	2.41E-4|2.41E-4	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.22945|.	1.93|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83695|.	0.5310|.	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.992|.	D;D|.	0.97110|.	1.0;0.976|.	D|.	0.86683|.	0.1918|.	10|.	0.87932|.	D|.	0|.	-12.8537|-12.8537	18.0887|18.0887	0.89466|0.89466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	925;939|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	L|X	891;860|863	ENSP00000400258:P860L|.	ENSP00000348366:P891L|.	P|R	+|+	2|1	0|2	DLGAP2|DLGAP2	1632742|1632742	1.000000|1.000000	0.71417|0.71417	0.060000|0.060000	0.19600|0.19600	0.254000|0.254000	0.26022|0.26022	7.404000|7.404000	0.79996|0.79996	2.270000|2.270000	0.75569|0.75569	0.561000|0.561000	0.74099|0.74099	CCG|CGA		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		13	87	0	0	0	1	0	13	87				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	196	0	0	0	1	0	5	196				
ALCAM	214	broad.mit.edu	37	3	105290748	105290748	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:105290748A>G	ENST00000306107.5	+	15	2217	c.1717A>G	c.(1717-1719)Aag>Gag	p.K573E	ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E|ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E|ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	573					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGAAAACAAAAAGTTAGAAGA	0.353																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1717-1719)Aag>Gag		activated leukocyte cell adhesion molecule							72.0	69.0	70.0					3																	105290748		2203	4299	6502	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105290748A>G	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1717A>G	3.37:g.105290748A>G	ENSP00000305988:p.Lys573Glu					ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E|ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E|ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E	p.K573E	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			15	2217	+			573					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1717A>G	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.78|18.78	3.696782|3.696782	0.68386|0.68386	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|T	0.58060|0.25579	0.42;0.58;0.36;1.15|1.79	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999979|0.999979	D;D;D|.	0.63880|.	0.993;0.993;0.993|.	D;D;D|.	0.70935|.	0.956;0.956;0.971|.	T|T	0.02282|0.02282	-1.1183|-1.1183	10|8	0.44086|0.29301	T|T	0.13|0.29	-17.4549|-17.4549	15.7464|15.7464	0.77949|0.77949	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	295;560;573|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	E|R	573;560;522;295|333	ENSP00000305988:K573E;ENSP00000419236:K560E;ENSP00000418213:K522E;ENSP00000374577:K295E|ENSP00000418937:K333R	ENSP00000305988:K573E|ENSP00000418937:K333R	K|K	+|+	1|2	0|0	ALCAM|ALCAM	106773438|106773438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.000000|6.000000	0.70678|0.70678	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	AAG|AAA		0.353	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		31	244	0	0	0	1	0	31	244				
TIAM1	7074	broad.mit.edu	37	21	32493062	32493062	+	Missense_Mutation	SNP	G	G	A	rs201116117		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32493062G>A	ENST00000286827.3	-	29	4871	c.4400C>T	c.(4399-4401)cCg>cTg	p.P1467L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1467					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCTTTCTCCGGGCTGCTTGC	0.577																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4399-4401)cCg>cTg		T-cell lymphoma invasion and metastasis 1							47.0	51.0	49.0					21																	32493062		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32493062G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4400C>T	21.37:g.32493062G>A	ENSP00000286827:p.Pro1467Leu					TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	p.P1467L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			29	4871	-			1467					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4400C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789061	0.90367	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.42131	0.98;1.01	5.14	5.14	0.70334	.	0.126543	0.53938	D	0.000041	T	0.49525	0.1562	L	0.50333	1.59	0.80722	D	1	D;D	0.58970	0.981;0.984	P;B	0.49637	0.617;0.413	T	0.51012	-0.8759	10	0.51188	T	0.08	.	18.6336	0.91369	0.0:0.0:1.0:0.0	.	1407;1467	F5GZ53;Q13009	.;TIAM1_HUMAN	L	1467;1407	ENSP00000286827:P1467L;ENSP00000441570:P1407L	ENSP00000286827:P1467L	P	-	2	0	TIAM1	31414933	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.421000	0.80204	2.377000	0.81083	0.655000	0.94253	CCG		0.577	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		37	221	0	0	0	1	0	37	221				
COL19A1	1310	broad.mit.edu	37	6	70831785	70831785	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:70831785T>C	ENST00000322773.4	+	17	1394	c.1292T>C	c.(1291-1293)aTa>aCa	p.I431T	COL19A1_ENST00000393344.1_Missense_Mutation_p.I53T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	431	Collagen-like 3.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTCCTGGAATACAAGGAATA	0.269																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1291-1293)aTa>aCa		collagen, type XIX, alpha 1							66.0	73.0	71.0					6																	70831785		2200	4275	6475	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70831785T>C		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1292T>C	6.37:g.70831785T>C	ENSP00000316030:p.Ile431Thr					COL19A1_ENST00000393344.1_Missense_Mutation_p.I53T	p.I431T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			17	1394	+			431					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1292T>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	9.437	1.087165	0.20390	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	D;T;T	0.96136	-3.92;1.4;1.4	5.32	1.21	0.21127	.	1.367040	0.04335	N	0.353095	T	0.80602	0.4654	L	0.35542	1.07	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.72475	-0.4282	10	0.10636	T	0.68	.	2.6339	0.04952	0.1426:0.0899:0.1479:0.6195	.	431	Q14993	COJA1_HUMAN	T	431;53;5	ENSP00000316030:I431T;ENSP00000377013:I53T;ENSP00000416556:I5T	ENSP00000316030:I431T	I	+	2	0	COL19A1	70888506	0.027000	0.19231	0.069000	0.20011	0.880000	0.50808	0.635000	0.24629	0.501000	0.28013	0.533000	0.62120	ATA		0.269	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			7	516	0	0	0	1	0	7	516				
XRCC3	7517	broad.mit.edu	37	14	104169592	104169592	+	Missense_Mutation	SNP	C	C	T	rs546280840		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:104169592C>T	ENST00000553264.1	-	5	1275	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000555832.1_5'Flank|XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	160					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGTGCGCAGCCGCGGCTGCTG	0.622								Direct reversal of damage;Homologous recombination					C|||	1	0.000199681	0.0008	0.0	5008	,	,		18134	0.0		0.0	False		,,,				2504	0.0					ENST00000553264.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(478-480)cGg>cAg	Direct reversal of damage;Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 3							38.0	30.0	32.0					14																	104169592		2186	4291	6477	SO:0001583	missense	7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104169592C>T	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.479G>A	14.37:g.104169592C>T	ENSP00000451974:p.Arg160Gln					XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron	p.R160Q			O43542	XRCC3_HUMAN		Epithelial(152;0.239)	5	1275	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	160					O43568|Q9BU18	Missense_Mutation	SNP	ENST00000553264.1	37	c.479G>A	CCDS9984.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858680	0.17178	.	.	ENSG00000126215	ENST00000554913;ENST00000352127;ENST00000553264;ENST00000555055;ENST00000445556	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.7	-3.94	0.04130	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	1.857050	0.02717	N	0.113582	T	0.30759	0.0775	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.16289	0.015	T	0.24297	-1.0164	10	0.31617	T	0.26	-22.7782	12.9742	0.58529	0.0:0.165:0.0:0.835	.	160	O43542	XRCC3_HUMAN	Q	160	ENSP00000451362:R160Q;ENSP00000343392:R160Q;ENSP00000451974:R160Q;ENSP00000452598:R160Q;ENSP00000412990:R160Q	ENSP00000343392:R160Q	R	-	2	0	XRCC3	103239345	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.699000	0.01906	-0.879000	0.04002	-0.367000	0.07326	CGG		0.622	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1	NM_005432		7	31	0	0	0	1	0	7	31				
KDM5B	10765	broad.mit.edu	37	1	202699041	202699041	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:202699041G>A	ENST00000367265.3	-	26	5455	c.4291C>T	c.(4291-4293)Cgg>Tgg	p.R1431W	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1467W	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1431					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTGGGGGTCCGCATTTTCTTA	0.463																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4291-4293)Cgg>Tgg		lysine (K)-specific demethylase 5B							174.0	167.0	169.0					1																	202699041		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202699041G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4291C>T	1.37:g.202699041G>A	ENSP00000356234:p.Arg1431Trp					KDM5B_ENST00000367264.2_Missense_Mutation_p.R1467W	p.R1431W	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			26	5455	-			1431					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4291C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458653	0.26248	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86097	-1.95;-1.76;-2.07	5.23	3.33	0.38152	.	0.620786	0.16055	N	0.231797	T	0.78616	0.4311	L	0.44542	1.39	0.34647	D	0.721256	B;B	0.13594	0.008;0.008	B;B	0.08055	0.002;0.003	T	0.76735	-0.2850	10	0.87932	D	0	-11.5036	7.8135	0.29245	0.0786:0.0:0.6182:0.3031	.	1467;1431	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	W	1431;1273;1467;1273	ENSP00000356234:R1431W;ENSP00000356233:R1467W;ENSP00000235790:R1273W	ENSP00000235790:R1273W	R	-	1	2	KDM5B	200965664	1.000000	0.71417	0.981000	0.43875	0.999000	0.98932	0.965000	0.29319	0.572000	0.29383	0.650000	0.86243	CGG		0.463	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		8	891	0	0	0	1	0	8	891				
NLRC5	84166	broad.mit.edu	37	16	57092011	57092011	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57092011A>G	ENST00000262510.6	+	28	4006	c.3781A>G	c.(3781-3783)Aga>Gga	p.R1261G	NLRC5_ENST00000436936.1_Missense_Mutation_p.R1261G|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1232G|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Missense_Mutation_p.R1232G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1261					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGCGGACTCAGATGCCTTCT	0.572																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3781-3783)Aga>Gga		NLR family, CARD domain containing 5							61.0	50.0	53.0					16																	57092011		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57092011A>G	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3781A>G	16.37:g.57092011A>G	ENSP00000262510:p.Arg1261Gly					NLRC5_ENST00000308149.7_Missense_Mutation_p.R1232G|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1232G|NLRC5_ENST00000262510.6_Missense_Mutation_p.R1261G|RP11-322D14.2_ENST00000562970.1_RNA	p.R1261G			Q86WI3	NLRC5_HUMAN			28	4006	+		all_neural(199;0.225)	1261					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3781A>G	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.659|7.659	0.684568|0.684568	0.14973|0.14973	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805;ENST00000399221|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	.|T;T;T;T;T	.|0.53423	.|0.62;5.54;0.62;5.54;0.62	4.68|4.68	2.39|2.39	0.29439|0.29439	.|.	.|.	.|.	.|.	.|.	T|T	0.44371|0.44371	0.1290|0.1290	M|M	0.68952|0.68952	2.095|2.095	0.09310|0.09310	N|N	1|1	.|P;P;B;B	.|0.36465	.|0.554;0.515;0.302;0.094	.|B;B;B;B	.|0.35550	.|0.205;0.156;0.08;0.054	T|T	0.28004|0.28004	-1.0057|-1.0057	5|9	.|0.49607	.|T	.|0.09	.|.	8.9296|8.9296	0.35661|0.35661	0.6488:0.3512:0.0:0.0|0.6488:0.3512:0.0:0.0	.|.	.|945;1232;1261;1261	.|Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;NLRC5_HUMAN	R|G	1012;12|1261;1232;1261;704;1232;737	.|ENSP00000262510:R1261G;ENSP00000308886:R1232G;ENSP00000389739:R1261G;ENSP00000441727:R1232G;ENSP00000441597:R737G	.|ENSP00000262510:R1261G	Q|R	+|+	2|1	0|2	NLRC5|NLRC5	55649512|55649512	0.968000|0.968000	0.33430|0.33430	0.285000|0.285000	0.24819|0.24819	0.051000|0.051000	0.14879|0.14879	1.064000|1.064000	0.30579|0.30579	0.292000|0.292000	0.22492|0.22492	0.449000|0.449000	0.29647|0.29647	CAG|AGA		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		4	181	0	0	0	1	0	4	181				
MYO5A	4644	broad.mit.edu	37	15	52672018	52672018	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:52672018C>T	ENST00000399231.3	-	17	2343		c.e17+1		MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCAGGCTCACCGTGAGGGGA	0.453																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.e17+1		myosin VA (heavy chain 12, myoxin)							105.0	108.0	107.0					15																	52672018		1920	4133	6053	SO:0001630	splice_region_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52672018C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2099+1G>A	15.37:g.52672018C>T						MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site		NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	17	2343	-								A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Splice_Site	SNP	ENST00000399231.3	37		CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385741	0.82792	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	4.99	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1161	0.72404	0.0:0.8581:0.1419:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO5A	50459310	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	7.818000	0.86416	2.464000	0.83262	0.650000	0.86243	.		0.453	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	Intron	75	418	0	0	0	1	0	75	418				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			8	247	0	0	0	1	0	8	247				
PDE4DIP	9659	broad.mit.edu	37	1	144879561	144879561	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:144879561A>G	ENST00000369354.3	-	27	4078	c.3889T>C	c.(3889-3891)Tgt>Cgt	p.C1297R	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1297					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.C1297R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTCCTCACACTCTGAAAAA	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.C1297R(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4297-4299)Tgt>Cgt		phosphodiesterase 4D interacting protein							46.0	49.0	48.0					1																	144879561		2203	4290	6493	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879561A>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3889T>C	1.37:g.144879561A>G	ENSP00000358360:p.Cys1297Arg					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R	p.C1433R			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4335	-			1297					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4297T>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052829	0.55218	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.79;4.79;4.8;4.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.04048	0.0113	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.96	D;B	0.67548	0.952;0.421	T	0.51568	-0.8689	9	0.44086	T	0.13	.	14.0875	0.64968	1.0:0.0:0.0:0.0	.	1253;1297	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	R	1253;1297;1297;1433;1433	ENSP00000327209:C1253R;ENSP00000358360:C1297R;ENSP00000358363:C1297R;ENSP00000435654:C1433R;ENSP00000358366:C1433R	ENSP00000327209:C1253R	C	-	1	0	PDE4DIP	143590918	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.716000	0.68437	2.207000	0.71202	0.533000	0.62120	TGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	454	0	0	0	1	0	7	454				
PKP2	5318	broad.mit.edu	37	12	33031332	33031332	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:33031332T>C	ENST00000070846.6	-	3	506	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	PKP2_ENST00000340811.4_Missense_Mutation_p.Y161C	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	161					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCTGTGCGTGTAGTGAGCCCT	0.592																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(481-483)tAc>tGc		plakophilin 2							108.0	107.0	108.0					12																	33031332		2203	4297	6500	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031332T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.482A>G	12.37:g.33031332T>C	ENSP00000070846:p.Tyr161Cys					PKP2_ENST00000070846.6_Missense_Mutation_p.Y161C	p.Y161C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	590	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		161					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.482A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522175	0.44866	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.86030	-2.05;-2.06	4.98	4.98	0.66077	.	0.558681	0.16641	N	0.205627	D	0.89403	0.6705	L	0.59436	1.845	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.956;0.972	T	0.81169	-0.1055	10	0.59425	D	0.04	-5.6232	9.1145	0.36748	0.1628:0.0:0.0:0.8372	.	161;161;161	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	C	161	ENSP00000342800:Y161C;ENSP00000070846:Y161C	ENSP00000070846:Y161C	Y	-	2	0	PKP2	32922599	0.061000	0.20836	0.007000	0.13788	0.021000	0.10359	2.011000	0.40922	1.865000	0.54081	0.529000	0.55759	TAC		0.592	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		34	795	0	0	0	1	0	34	795				
TCP10	6953	broad.mit.edu	37	6	167796320	167796320	+	Silent	SNP	G	G	A	rs562134831	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:167796320G>A	ENST00000397829.4	-	2	209	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000476779.2_Silent_p.D14D|TCP10_ENST00000366827.2_Silent_p.D14D	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	41						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													g|||	3	0.000599042	0.0	0.0	5008	,	,		17533	0.0		0.002	False		,,,				2504	0.001					ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(40-42)gaC>gaT		t-complex 10																																				SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167796320G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.42C>T	6.37:g.167796320G>A						TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	p.D14D			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	2	253	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	41					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.42C>T	CCDS43527.1																																																																																				0.652	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		5	100	0	0	0	1	0	5	100				
HRC	3270	broad.mit.edu	37	19	49657913	49657913	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:49657913C>T	ENST00000252825.4	-	1	768	c.582G>A	c.(580-582)gaG>gaA	p.E194E	HRC_ENST00000595625.1_Silent_p.E194E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	194	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.E194E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcctcttcTCCTT	0.557																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			2	Substitution - coding silent(2)	p.E194E(2)	kidney(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(580-582)gaG>gaA		histidine rich calcium binding protein							121.0	96.0	104.0					19																	49657913		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657913C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.582G>A	19.37:g.49657913C>T						HRC_ENST00000595625.1_Silent_p.E194E	p.E194E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	768	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	194			4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.582G>A	CCDS12759.1																																																																																				0.557	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		6	375	0	0	0	1	0	6	375				
SOX11	6664	broad.mit.edu	37	2	5833216	5833216	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:5833216G>A	ENST00000322002.3	+	1	418	c.363G>A	c.(361-363)cgG>cgA	p.R121R	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	121					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACCGGCCCCGGAAAAAGCCCA	0.692																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(361-363)cgG>cgA		SRY (sex determining region Y)-box 11							17.0	23.0	21.0					2																	5833216		2197	4300	6497	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833216G>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.363G>A	2.37:g.5833216G>A							p.R121R	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	418	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		121					Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.363G>A	CCDS1654.1																																																																																				0.692	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		4	136	0	0	0	1	0	4	136				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			9	509	0	0	0	1	0	9	509				
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:140181071G>C	ENST00000522353.2	+	1	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557																																						ENST00000522353.2																			4	Substitution - Missense(4)	p.G97R(2)|p.G97W(2)	lung(4)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(289-291)Ggg>Cgg									129.0	144.0	139.0					5																	140181071		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181071G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.289G>C	5.37:g.140181071G>C	ENSP00000429808:p.Gly97Arg					PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	p.G97R	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	289	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.289G>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.668997	0.29604	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.30981	1.51;1.51	4.51	4.51	0.55191	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.171277	0.26840	U	0.022223	T	0.46425	0.1392	M	0.71206	2.165	0.23249	N	0.998041	P;P	0.51057	0.941;0.686	P;P	0.54270	0.747;0.49	T	0.39143	-0.9628	10	0.52906	T	0.07	.	13.3391	0.60535	0.0:0.1587:0.8413:0.0	.	97;97	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	R	97	ENSP00000429808:G97R;ENSP00000434086:G97R	ENSP00000429808:G97R	G	+	1	0	PCDHA3	140161255	0.456000	0.25744	1.000000	0.80357	0.357000	0.29423	1.966000	0.40481	2.228000	0.72767	0.467000	0.42956	GGG		0.557	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		10	799	0	0	0	1	0	10	799				
OTOF	9381	broad.mit.edu	37	2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A	rs560665036		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1452					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTGAAGCGTCCCACAATG	0.642																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4354-4356)Cgc>Tgc		otoferlin							52.0	48.0	49.0					2																	26689975		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26689975G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4354C>T	2.37:g.26689975G>A	ENSP00000272371:p.Arg1452Cys					OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C	p.R1452C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			35	4480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1452					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4354C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597730	0.46318	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80480	-1.13;-1.13;-1.12;-1.38;-1.38	4.69	-0.734	0.11140	.	0.045494	0.85682	D	0.000000	T	0.68504	0.3008	L	0.41236	1.265	0.80722	D	1	B;B;B;B	0.33171	0.397;0.026;0.4;0.026	B;B;B;B	0.20955	0.013;0.032;0.03;0.032	T	0.66172	-0.5990	10	0.59425	D	0.04	-20.9378	14.53	0.67917	0.0:0.0:0.3367:0.6633	.	1452;685;762;685	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	685;685;762;1452;1452	ENSP00000345137:R685C;ENSP00000344521:R685C;ENSP00000383906:R762C;ENSP00000272371:R1452C;ENSP00000385255:R1452C	ENSP00000272371:R1452C	R	-	1	0	OTOF	26543479	0.984000	0.35163	0.971000	0.41717	0.920000	0.55202	0.944000	0.29043	0.077000	0.16863	0.561000	0.74099	CGC		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			36	175	0	0	0	1	0	36	175				
PSG5	5673	broad.mit.edu	37	19	43683042	43683042	+	Intron	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:43683042A>G	ENST00000366175.3	-	3	561				PSG5_ENST00000407356.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.L233P			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GAGGAGATTCAGGGTGACTGG	0.522																																						ENST00000599812.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(697-699)cTg>cCg		pregnancy specific beta-1-glycoprotein 5							355.0	334.0	340.0					19																	43683042		874	1990	2864	SO:0001627	intron_variant	5673				female pregnancy	extracellular region		g.chr19:43683042A>G		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.431-2742T>C	19.37:g.43683042A>G						PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000407568.1_Intron	p.L233P			Q15238	PSG5_HUMAN			3	793	-		Prostate(69;0.00899)	140			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.698T>C	CCDS12617.1																																																																																				0.522	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		8	1575	0	0	0	1	0	8	1575				
GPR21	2844	broad.mit.edu	37	9	125797611	125797611	+	Nonsense_Mutation	SNP	C	C	T	rs370055199		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:125797611C>T	ENST00000373642.1	+	1	806	c.766C>T	c.(766-768)Cga>Tga	p.R256*	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	256					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGTCCTGTTTCGAATCACTAG	0.507																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(766-768)Cga>Tga		G protein-coupled receptor 21		C	stop/ARG,	0,4406		0,0,2203	180.0	158.0	165.0		766,	5.0	1.0	9		165	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,intron	GPR21,RABGAP1	NM_005294.1,NM_012197.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	256/350,	125797611	1,13005	2203	4300	6503	SO:0001587	stop_gained	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797611C>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.766C>T	9.37:g.125797611C>T	ENSP00000362746:p.Arg256*					RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	p.R256*	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	806	+			256					B2R8W9|Q6NXU2	Nonsense_Mutation	SNP	ENST00000373642.1	37	c.766C>T	CCDS6849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.225223|4.225223	0.79576|0.79576	0.0|0.0	1.16E-4|1.16E-4	ENSG00000188394|ENSG00000188394	ENST00000373642|ENST00000412269	.|.	.|.	.|.	5.93|5.93	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.64402|.	U|.	0.000006|.	.|T	.|0.66356	.|0.2781	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61456	.|-0.7059	.|5	0.30854|0.19590	T|T	0.27|0.45	-4.8434|-4.8434	16.7619|16.7619	0.85514|0.85514	0.1297:0.8703:0.0:0.0|0.1297:0.8703:0.0:0.0	.|.	.|.	.|.	.|.	X|L	256|248	.|.	ENSP00000362746:R256X|ENSP00000389239:S248L	R|S	+|+	1|2	2|0	GPR21|GPR21	124837432|124837432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	3.714000|3.714000	0.54889|0.54889	1.491000|1.491000	0.48482|0.48482	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.507	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		33	557	0	0	0	1	0	33	557				
HDHD2	84064	broad.mit.edu	37	18	44661018	44661018	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:44661018C>T	ENST00000300605.6	-	3	311	c.159G>A	c.(157-159)aaG>aaA	p.K53K	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	53						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						ACAGGTCTTGCTTGCTCTCTT	0.403																																						ENST00000300605.6																			0				kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						c.(157-159)aaG>aaA		haloacid dehalogenase-like hydrolase domain containing 2							164.0	164.0	164.0					18																	44661018		2203	4300	6503	SO:0001819	synonymous_variant	84064						hydrolase activity	g.chr18:44661018C>T	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.159G>A	18.37:g.44661018C>T						HDHD2_ENST00000587841.1_Intron	p.K53K	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN			3	311	-			53					A8K7T3|Q96NV4	Silent	SNP	ENST00000300605.6	37	c.159G>A	CCDS32829.1																																																																																				0.403	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		65	211	0	0	0	1	0	65	211				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	252	0	0	0	1	0	5	252				
TIAM1	7074	broad.mit.edu	37	21	32589921	32589921	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32589921C>A	ENST00000286827.3	-	10	2561	c.2090G>T	c.(2089-2091)tGg>tTg	p.W697L	TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	697					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCCAGACCCCACAGAGAAGA	0.532																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2089-2091)tGg>tTg		T-cell lymphoma invasion and metastasis 1							185.0	161.0	169.0					21																	32589921		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32589921C>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2090G>T	21.37:g.32589921C>A	ENSP00000286827:p.Trp697Leu					TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L|TIAM1_ENST00000469412.1_5'UTR	p.W697L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			10	2561	-			697					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2090G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906475	0.72868	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.32988	1.43;1.43	5.41	5.41	0.78517	.	0.124926	0.64402	D	0.000016	T	0.33556	0.0867	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.32573	0.101;0.061;0.376;0.104	B;B;B;B	0.30401	0.098;0.045;0.115;0.11	T	0.08953	-1.0697	10	0.46703	T	0.11	.	19.3868	0.94560	0.0:1.0:0.0:0.0	.	697;697;538;697	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	L	697;538;697	ENSP00000286827:W697L;ENSP00000441570:W697L	ENSP00000286827:W697L	W	-	2	0	TIAM1	31511792	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.569000	0.82380	2.803000	0.96430	0.655000	0.94253	TGG		0.532	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		57	368	1	0	1.27862e-28	1	1.36306e-28	57	368				
PCDH11X	27328	broad.mit.edu	37	X	91132649	91132649	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:91132649C>T	ENST00000373094.1	+	2	2255	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000504220.2_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAGTCTTTCGTAACTGTTT	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1408-1410)ttC>ttT		protocadherin 11 X-linked							63.0	57.0	59.0					X																	91132649		2203	4298	6501	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132649C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1410C>T	X.37:g.91132649C>T						PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000504220.1_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F	p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2255	+			470			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.1410C>T	CCDS14461.1																																																																																				0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		145	78	0	0	0	1	0	145	78				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	142	0	0	0	1	0	7	142				
CD8B	926	broad.mit.edu	37	2	87085345	87085345	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:87085345T>G	ENST00000390655.6	-	2	296	c.238A>C	c.(238-240)Atc>Ctc	p.I80L	CD8B_ENST00000393759.2_Missense_Mutation_p.I80L|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Missense_Mutation_p.I80L|CD8B_ENST00000349455.3_Missense_Mutation_p.I80L|CD8B_ENST00000331469.2_Missense_Mutation_p.I80L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	80	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TCACCGTGGATAGTCCCTTTT	0.552																																						ENST00000390655.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(238-240)Atc>Ctc		CD8b molecule							108.0	97.0	101.0					2																	87085345		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085345T>G		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.238A>C	2.37:g.87085345T>G	ENSP00000375070:p.Ile80Leu					CD8B_ENST00000331469.2_Missense_Mutation_p.I80L|CD8B_ENST00000393759.2_Missense_Mutation_p.I80L|CD8B_ENST00000349455.3_Missense_Mutation_p.I80L|CD8B_ENST00000393761.2_Missense_Mutation_p.I80L|CD8B_ENST00000431506.2_Intron	p.I80L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN			2	296	-			80			Ig-like V-type.		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.238A>C	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	T	8.426	0.847470	0.17034	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	4.35	-6.41	0.01938	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.220850	0.00873	N	0.002047	T	0.41096	0.1144	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B;B	0.24132	0.016;0.001;0.004;0.002;0.001;0.098	B;B;B;B;B;B	0.15484	0.007;0.003;0.004;0.002;0.003;0.013	T	0.20042	-1.0287	10	0.28530	T	0.3	0.0063	7.5745	0.27928	0.1156:0.284:0.0:0.6004	.	80;80;80;80;80;80	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	L	80	ENSP00000377358:I80L;ENSP00000377356:I80L;ENSP00000340592:I80L;ENSP00000331172:I80L;ENSP00000375070:I80L	ENSP00000331172:I80L	I	-	1	0	CD8B	86938856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.673000	0.01951	-1.420000	0.02009	-2.142000	0.00338	ATC		0.552	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		48	384	0	0	0	1	0	48	384				
SLC12A5	57468	broad.mit.edu	37	20	44685548	44685548	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:44685548C>T	ENST00000454036.2	+	24	3241	c.3192C>T	c.(3190-3192)aaC>aaT	p.N1064N	SLC12A5_ENST00000243964.3_Silent_p.N1041N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1064					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTGGGAGAACTTGTAAGTGC	0.493																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(3190-3192)aaC>aaT		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						171.0	161.0	165.0					20																	44685548		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44685548C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3192C>T	20.37:g.44685548C>T						SLC12A5_ENST00000243964.3_Silent_p.N1041N	p.N1064N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			24	3268	+		Myeloproliferative disorder(115;0.0122)	1064					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.3192C>T	CCDS46610.1																																																																																				0.493	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			53	353	0	0	0	1	0	53	353				
RBM27	54439	broad.mit.edu	37	5	145651191	145651191	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:145651191G>A	ENST00000265271.5	+	19	3108	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E	RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	981					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAACAGTTGGAGGATTCATT	0.443																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2941-2943)gGa>gAa		RNA binding motif protein 27							141.0	136.0	138.0					5																	145651191		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145651191G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2942G>A	5.37:g.145651191G>A	ENSP00000265271:p.Gly981Glu					RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	p.G981E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	3108	+			981					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2942G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225732	0.39300	.	.	ENSG00000091009	ENST00000265271	T	0.41065	1.01	4.93	3.02	0.34903	.	0.351548	0.27019	N	0.021331	T	0.26048	0.0635	N	0.22421	0.69	0.32293	N	0.566076	B	0.19583	0.037	B	0.13407	0.009	T	0.18935	-1.0321	10	0.30854	T	0.27	-10.6489	10.0237	0.42059	0.0:0.1252:0.635:0.2397	.	981	Q9P2N5	RBM27_HUMAN	E	981	ENSP00000265271:G981E	ENSP00000265271:G981E	G	+	2	0	RBM27	145631384	0.676000	0.27567	1.000000	0.80357	0.993000	0.82548	2.866000	0.48420	2.445000	0.82738	0.650000	0.86243	GGA		0.443	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		31	244	0	0	0	1	0	31	244				
DCAF5	8816	broad.mit.edu	37	14	69522129	69522129	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:69522129C>T	ENST00000341516.5	-	9	1421	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	DCAF5_ENST00000554215.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000557386.1_Missense_Mutation_p.R424Q	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	425					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTCGATCTCTCGGCGTACCAG	0.587																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1273-1275)cGa>cAa		DDB1 and CUL4 associated factor 5							73.0	68.0	69.0					14																	69522129		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522129C>T	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1274G>A	14.37:g.69522129C>T	ENSP00000341351:p.Arg425Gln					DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.R424Q|DCAF5_ENST00000556847.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000554215.1_Missense_Mutation_p.R343Q	p.R425Q	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	1421	-			425					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1274G>A	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141952	0.77775	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.75938	-0.98;-0.81;-0.81;-0.3	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	L	0.34521	1.04	0.80722	D	1	P;P	0.49358	0.923;0.875	P;B	0.47891	0.56;0.357	T	0.71906	-0.4451	10	0.38643	T	0.18	-8.3451	19.7989	0.96497	0.0:1.0:0.0:0.0	.	424;425	G3V4J7;Q96JK2	.;DCAF5_HUMAN	Q	425;343;343;424	ENSP00000341351:R425Q;ENSP00000451551:R343Q;ENSP00000452052:R343Q;ENSP00000451845:R424Q	ENSP00000341351:R425Q	R	-	2	0	DCAF5	68591882	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	7.336000	0.79245	2.683000	0.91414	0.561000	0.74099	CGA		0.587	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		5	272	0	0	0	1	0	5	272				
KRTAP10-6	386674	broad.mit.edu	37	21	46011719	46011719	+	Missense_Mutation	SNP	G	G	A	rs202022037	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46011719G>A	ENST00000400368.1	-	1	667	c.647C>T	c.(646-648)cCa>cTa	p.P216L	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	216	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GCAGCAAGTTGGCTGGCAGCT	0.667													.|||	17	0.00339457	0.0106	0.0029	5008	,	,		21667	0.001		0.0	False		,,,				2504	0.0					ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(646-648)cCa>cTa		keratin associated protein 10-6							93.0	121.0	111.0					21																	46011719		2195	4300	6495	SO:0001583	missense	386674					keratin filament		g.chr21:46011719G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.647C>T	21.37:g.46011719G>A	ENSP00000383219:p.Pro216Leu					TSPEAR_ENST00000323084.4_Intron	p.P216L	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	667	-			216			29 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000400368.1	37	c.647C>T	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	-	10.60	1.394637	0.25205	.	.	ENSG00000188155	ENST00000400368	T	0.02158	4.42	3.12	2.23	0.28157	.	.	.	.	.	T	0.03695	0.0105	M	0.74647	2.275	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.36114	-0.9761	9	0.72032	D	0.01	.	3.9932	0.09546	0.1273:0.0:0.6351:0.2376	.	216	P60371	KR106_HUMAN	L	216	ENSP00000383219:P216L	ENSP00000383219:P216L	P	-	2	0	KRTAP10-6	44836147	0.000000	0.05858	0.005000	0.12908	0.072000	0.16883	0.690000	0.25451	0.665000	0.31066	-0.302000	0.09304	CCA		0.667	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		8	835	0	0	0	1	0	8	835				
SLC9A9	285195	broad.mit.edu	37	3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1477-1479)Gtg>Atg		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							187.0	182.0	183.0					3																	143100949		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143100949C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1477G>A	3.37:g.143100949C>T	ENSP00000320246:p.Val493Met					SLC9A9-AS2_ENST00000490153.1_RNA	p.V493M	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			13	1685	-			493					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1477G>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026124	0.54683	.	.	ENSG00000181804	ENST00000316549	T	0.30714	1.52	5.11	4.24	0.50183	.	0.350509	0.24330	N	0.039471	T	0.33177	0.0854	M	0.80332	2.49	0.46542	D	0.999099	P	0.38420	0.63	B	0.33750	0.169	T	0.29336	-1.0015	10	0.66056	D	0.02	.	9.1529	0.36973	0.0:0.9029:0.0:0.0971	.	493	Q8IVB4	SL9A9_HUMAN	M	493	ENSP00000320246:V493M	ENSP00000320246:V493M	V	-	1	0	SLC9A9	144583639	0.990000	0.36364	0.987000	0.45799	0.986000	0.74619	1.403000	0.34612	1.376000	0.46267	0.655000	0.94253	GTG		0.438	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		105	526	0	0	0	1	0	105	526				
LOC101927016	101927016	broad.mit.edu	37	13	64320999	64320999	+	Silent	SNP	T	T	C	rs190060383		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:64320999T>C	ENST00000453638.2	+	1	66	c.66T>C	c.(64-66)tcT>tcC	p.S22S	RP11-473M10.3_ENST00000418943.1_lincRNA																endometrium(2)|lung(1)|urinary_tract(1)	4						gctatggctctggttatggct	0.522																																						ENST00000453638.2																			0				endometrium(2)|lung(1)|urinary_tract(1)	4						c.(64-66)tcT>tcC																																						SO:0001819	synonymous_variant	0							g.chr13:64320999T>C																												ENST00000453638.2:c.66T>C	13.37:g.64320999T>C							p.S22S							1	66	+									Silent	SNP	ENST00000453638.2	37	c.66T>C																																																																																					0.522	AL445989.1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	107	0	0	0	1	0	6	107				
MUC17	140453	broad.mit.edu	37	7	100679220	100679220	+	Missense_Mutation	SNP	C	C	T	rs374713003		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:100679220C>T	ENST00000306151.4	+	3	4587	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1508	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAATCTCAACGCCTAGTGAA	0.473																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4522-4524)aCg>aTg		mucin 17, cell surface associated		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	209.0	197.0	201.0		4523	-0.1	0.0	7		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1508/4494	100679220	2,13004	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679220C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4523C>T	7.37:g.100679220C>T	ENSP00000302716:p.Thr1508Met						p.T1508M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4587	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1508			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4523C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.032	-1.330977	0.01298	2.27E-4	1.16E-4	ENSG00000169876	ENST00000306151	T	0.03330	3.97	0.922	-0.0705	0.13747	.	.	.	.	.	T	0.04092	0.0114	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.53185	0.72	T	0.45454	-0.9260	9	0.32370	T	0.25	.	4.9293	0.13909	0.0:0.6094:0.3906:0.0	.	1508	Q685J3	MUC17_HUMAN	M	1508	ENSP00000302716:T1508M	ENSP00000302716:T1508M	T	+	2	0	MUC17	100465940	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.062000	0.14389	0.011000	0.14865	-1.865000	0.00557	ACG		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		97	1218	0	0	0	1	0	97	1218				
TIAM2	26230	broad.mit.edu	37	6	155450620	155450620	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:155450620G>A	ENST00000461783.3	+	6	1536	c.263G>A	c.(262-264)gGt>gAt	p.G88D	TIAM2_ENST00000318981.5_Missense_Mutation_p.G88D|TIAM2_ENST00000360366.4_Missense_Mutation_p.G88D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.G88D|TIAM2_ENST00000456144.1_Missense_Mutation_p.G88D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	88					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTCTCCAGAGGTGTTGCCTAC	0.552																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(262-264)gGt>gAt		T-cell lymphoma invasion and metastasis 2							72.0	65.0	68.0					6																	155450620		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155450620G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.263G>A	6.37:g.155450620G>A	ENSP00000437188:p.Gly88Asp					TIAM2_ENST00000360366.4_Missense_Mutation_p.G88D|TIAM2_ENST00000456144.1_Missense_Mutation_p.G88D|TIAM2_ENST00000529824.2_Missense_Mutation_p.G88D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.G88D	p.G88D			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	1536	+		Ovarian(120;0.196)	88					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.263G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198064	0.22037	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.06933	3.33;3.24;3.3;3.33;3.32;3.3	5.33	4.46	0.54185	.	0.114029	0.64402	N	0.000011	T	0.03915	0.0110	M	0.62723	1.935	0.80722	D	1	B	0.30021	0.265	B	0.24006	0.05	T	0.15263	-1.0443	10	0.51188	T	0.08	.	7.9497	0.30008	0.0808:0.0:0.7604:0.1588	.	88	Q8IVF5	TIAM2_HUMAN	D	88;334;88;88;88;88;88;88	ENSP00000437188:G88D;ENSP00000434901:G88D;ENSP00000407746:G88D;ENSP00000327315:G88D;ENSP00000353528:G88D;ENSP00000433348:G88D	ENSP00000327315:G88D	G	+	2	0	TIAM2	155492312	0.975000	0.34042	0.131000	0.22000	0.014000	0.08584	2.069000	0.41481	1.230000	0.43646	0.561000	0.74099	GGT		0.552	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		14	170	0	0	0	1	0	14	170				
LRRC7	57554	broad.mit.edu	37	1	70257750	70257750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70257750C>T	ENST00000035383.5	+	2	244	c.214C>T	c.(214-216)Cga>Tga	p.R72*	LRRC7_ENST00000310961.5_Nonsense_Mutation_p.R77*|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	72						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R72G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCAAGCTCTACGAAAACTAAG	0.294																																						ENST00000310961.5																			1	Substitution - Missense(1)	p.R72G(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(229-231)Cga>Tga		leucine rich repeat containing 7							95.0	103.0	100.0					1																	70257750		2202	4295	6497	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70257750C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.214C>T	1.37:g.70257750C>T	ENSP00000035383:p.Arg72*					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R72*	p.R77*			Q96NW7	LRRC7_HUMAN			5	647	+			72					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.229C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592986	0.97688	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.68	2.7	0.31948	.	0.148908	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3006	0.60324	0.4547:0.5453:0.0:0.0	.	.	.	.	X	77;110;72;72	.	ENSP00000035383:R72X	R	+	1	2	LRRC7	70030338	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	2.305000	0.43664	0.277000	0.22141	0.561000	0.74099	CGA		0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		134	351	0	0	0	1	0	134	351				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367484.3_Intron	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	459	0	0	0	1	0	8	459				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	139	0	0	0	1	0	6	139				
GPR133	283383	broad.mit.edu	37	12	131593364	131593364	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:131593364G>A	ENST00000261654.5	+	18	2542	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	GPR133_ENST00000535015.1_Silent_p.V693V|GPR133_ENST00000543617.1_Silent_p.V180V|GPR133_ENST00000376682.4_Silent_p.V347V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	661					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCATGGTGATCAAGGTCT	0.612																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1981-1983)gtG>gtA		G protein-coupled receptor 133							176.0	160.0	166.0					12																	131593364		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593364G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1983G>A	12.37:g.131593364G>A						GPR133_ENST00000535015.1_Silent_p.V693V|GPR133_ENST00000543617.1_Silent_p.V180V|GPR133_ENST00000376682.4_Silent_p.V347V	p.V661V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2542	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		661					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1983G>A	CCDS9272.1																																																																																				0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		264	172	0	0	0	1	0	264	172				
ZNF28	7576	broad.mit.edu	37	19	53303834	53303834	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:53303834A>T	ENST00000457749.2	-	4	1383	c.1264T>A	c.(1264-1266)Tat>Aat	p.Y422N	ZNF28_ENST00000438150.2_Missense_Mutation_p.Y369N|ZNF28_ENST00000360272.4_Missense_Mutation_p.Y369N|ZNF28_ENST00000414252.2_Missense_Mutation_p.Y369N	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TATGAATTATATGCAAAAGCC	0.353																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1105-1107)Tat>Aat		zinc finger protein 28							117.0	124.0	122.0					19																	53303834		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303834A>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1264T>A	19.37:g.53303834A>T	ENSP00000397693:p.Tyr422Asn					ZNF28_ENST00000360272.4_Missense_Mutation_p.Y369N|ZNF28_ENST00000414252.2_Missense_Mutation_p.Y369N|ZNF28_ENST00000457749.2_Missense_Mutation_p.Y422N	p.Y369N			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1998	-			422					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1105T>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	3.848	-0.032494	0.07543	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09	1.75	-3.5	0.04710	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04998	0.0134	N	0.25647	0.755	0.09310	N	1	B	0.23128	0.08	B	0.25140	0.058	T	0.40213	-0.9575	9	0.30854	T	0.27	.	4.1215	0.10108	0.3639:0.3121:0.324:0.0	.	422	P17035	ZNF28_HUMAN	N	369;422;369;369;369	ENSP00000412143:Y369N;ENSP00000397693:Y422N;ENSP00000353410:Y369N;ENSP00000444965:Y369N;ENSP00000375661:Y369N	ENSP00000353410:Y369N	Y	-	1	0	ZNF28	57995646	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-11.752000	0.00003	-1.516000	0.01782	0.165000	0.16767	TAT		0.353	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		10	1162	0	0	0	1	0	10	1162				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:20170029C>T	ENST00000338912.5	-	0	242									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CCTGGAACTTCTGTGCATAGC	0.547																																						ENST00000338912.5																			0																				159.0	154.0	156.0					15																	20170029		2104	4233	6337			0							g.chr15:20170029C>T	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170029C>T														0	242	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			7	650	0	0	0	1	0	7	650				
COL18A1	80781	broad.mit.edu	37	21	46932271	46932271	+	Missense_Mutation	SNP	G	G	A	rs573442861		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46932271G>A	ENST00000359759.4	+	41	5245	c.5224G>A	c.(5224-5226)Gtg>Atg	p.V1742M	COL18A1_ENST00000400337.2_Missense_Mutation_p.V1327M|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.V1507M|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1742	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGCCTACATCGTGCTCTGCAT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		14990	0.001		0.0	False		,,,				2504	0.0					ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(5224-5226)Gtg>Atg		collagen, type XVIII, alpha 1							26.0	30.0	29.0					21																	46932271		2118	4224	6342	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46932271G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.5224G>A	21.37:g.46932271G>A	ENSP00000352798:p.Val1742Met					COL18A1_ENST00000400337.2_Missense_Mutation_p.V1327M|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.V1507M	p.V1742M			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	41	5245	+			1742			Nonhelical region 11 (NC11).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.5224G>A		.	.	.	.	.	.	.	.	.	.	G	16.15	3.041922	0.55003	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.41	3.52	0.40303	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.000000	0.85682	U	0.000000	T	0.77418	0.4127	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.99;0.996;0.994	T	0.80417	-0.1391	10	0.87932	D	0	.	10.9067	0.47084	0.0934:0.0:0.9066:0.0	.	1742;1324;1507;1327	P39060;D3DSM4;P39060-1;P39060-2	COIA1_HUMAN;.;.;.	M	1327;1327;1507;1742;1742;675	ENSP00000383191:V1327M;ENSP00000347665:V1507M;ENSP00000352798:V1742M;ENSP00000339118:V675M	ENSP00000339118:V675M	V	+	1	0	COL18A1	45756699	1.000000	0.71417	0.357000	0.25798	0.012000	0.07955	5.167000	0.64972	1.005000	0.39183	0.549000	0.68633	GTG		0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			7	107	0	0	0	1	0	7	107				
OSGIN1	29948	broad.mit.edu	37	16	83994666	83994666	+	Silent	SNP	G	G	A	rs376376327		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:83994666G>A	ENST00000343939.2	+	6	1109	c.726G>A	c.(724-726)caG>caA	p.Q242Q	OSGIN1_ENST00000361711.3_Silent_p.Q159Q|OSGIN1_ENST00000393306.1_Silent_p.Q159Q|OSGIN1_ENST00000565123.1_Silent_p.Q159Q			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	242					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						ACTGGATGCAGAAGAAGCGAA	0.572																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(724-726)caG>caA		oxidative stress induced growth inhibitor 1		G	,,	0,4400		0,0,2200	64.0	65.0	65.0		726,477,477	0.1	0.2	16		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OSGIN1	NM_013370.3,NM_182980.2,NM_182981.2	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	242/561,159/478,159/478	83994666	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83994666G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.726G>A	16.37:g.83994666G>A						OSGIN1_ENST00000565123.1_Silent_p.Q159Q|OSGIN1_ENST00000361711.3_Silent_p.Q159Q|OSGIN1_ENST00000393306.1_Silent_p.Q159Q	p.Q242Q			Q9UJX0	OSGI1_HUMAN			6	1109	+			242					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37	c.726G>A																																																																																					0.572	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		57	242	0	0	0	1	0	57	242				
PFKFB4	5210	broad.mit.edu	37	3	48563059	48563059	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48563059T>A	ENST00000232375.3	-	10	1143	c.1031A>T	c.(1030-1032)tAt>tTt	p.Y344F	PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000545984.1_3'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	344	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTCCAGTGGATAATTATCCTG	0.557																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1030-1032)tAt>tTt		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							76.0	66.0	69.0					3																	48563059		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48563059T>A	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1031A>T	3.37:g.48563059T>A	ENSP00000232375:p.Tyr344Phe					PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F	p.Y344F	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	10	1143	-			344			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.1031A>T	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822425	0.32237	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000541519	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.1	4.1	0.47936	Histidine phosphatase superfamily, clade-1 (2);	0.252467	0.41097	D	0.000943	T	0.48960	0.1529	N	0.12663	0.25	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.17722	0.019;0.001;0.017	T	0.44787	-0.9305	10	0.37606	T	0.19	-5.5052	7.0254	0.24936	0.2025:0.0:0.0:0.7974	.	333;337;344	B7Z5C3;Q66S35;Q16877	.;.;F264_HUMAN	F	344;333;337;310	ENSP00000232375:Y344F;ENSP00000438908:Y333F;ENSP00000388394:Y337F;ENSP00000437446:Y310F	ENSP00000232375:Y344F	Y	-	2	0	PFKFB4	48538063	0.498000	0.26075	1.000000	0.80357	0.990000	0.78478	3.035000	0.49759	1.844000	0.53588	0.383000	0.25322	TAT		0.557	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		14	141	0	0	0	1	0	14	141				
CADM2	253559	broad.mit.edu	37	3	85961592	85961592	+	Missense_Mutation	SNP	G	G	A	rs150681488		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:85961592G>A	ENST00000407528.2	+	5	634	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q|CADM2_ENST00000383699.3_Missense_Mutation_p.R200Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	191	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGGACTTCCGAGTGGACCGG	0.433																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(598-600)cGa>cAa		cell adhesion molecule 2		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	100.0	80.0	87.0		572,599,578	4.6	1.0	3	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CADM2	NM_001167674.1,NM_001167675.1,NM_153184.3	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	191/436,200/405,193/438	85961592	1,13005	2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961592G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.572G>A	3.37:g.85961592G>A	ENSP00000384575:p.Arg191Gln					CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q|CADM2_ENST00000407528.2_Missense_Mutation_p.R191Q	p.R200Q	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	6	1226	+		Lung NSC(201;0.0148)	191			Ig-like C2-type 1.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.599G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.020020	0.19433	0.0	1.16E-4	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76578	-1.03;-1.03;-1.03	5.5	4.62	0.57501	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.280225	0.38058	N	0.001838	T	0.43411	0.1246	N	0.01874	-0.695	0.32061	N	0.595716	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.08055	0.002;0.002;0.003	T	0.49606	-0.8922	10	0.07030	T	0.85	.	3.7449	0.08544	0.2201:0.0:0.5739:0.206	.	193;200;191	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	Q	200;191;193	ENSP00000373200:R200Q;ENSP00000384575:R191Q;ENSP00000384193:R193Q	ENSP00000373200:R200Q	R	+	2	0	CADM2	86044282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.202000	0.58446	2.583000	0.87209	0.591000	0.81541	CGA		0.433	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		70	140	0	0	0	1	0	70	140				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			10	464	0	0	0	1	0	10	464				
COL11A1	1301	broad.mit.edu	37	1	103400665	103400665	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:103400665G>C	ENST00000370096.3	-	45	3755	c.3443C>G	c.(3442-3444)cCt>cGt	p.P1148R	COL11A1_ENST00000358392.2_Missense_Mutation_p.P1160R|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1148	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGACCGGGAGGGCCCTGCAG	0.448																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3478-3480)cCt>cGt		collagen, type XI, alpha 1							30.0	32.0	31.0					1																	103400665		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400665G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3443C>G	1.37:g.103400665G>C	ENSP00000359114:p.Pro1148Arg					COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1148R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R	p.P1160R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	45	3796	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1148			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3479C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171191	0.57584	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.989;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.967;0.999;0.997;0.997	D	0.99935	1.1349	10	0.87932	D	0	.	19.4476	0.94854	0.0:0.0:1.0:0.0	.	1032;1109;1160;1148;368	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1148;1160;1109;368;1032	ENSP00000359114:P1148R;ENSP00000351163:P1160R;ENSP00000302551:P1109R;ENSP00000426533:P1032R	ENSP00000302551:P1109R	P	-	2	0	COL11A1	103173253	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.813000	0.99286	2.588000	0.87417	0.655000	0.94253	CCT		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		14	112	0	0	0	1	0	14	112				
KCNA1	3736	broad.mit.edu	37	12	5021899	5021899	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:5021899C>A	ENST00000382545.3	+	2	2462	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	452				S -> Y (in Ref. 1; AAA36139). {ECO:0000305}.	potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	ATGAGCAAGTCTGAGTACATG	0.483																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1354-1356)tCt>tAt		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						200.0	195.0	196.0					12																	5021899		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021899C>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1355C>A	12.37:g.5021899C>A	ENSP00000371985:p.Ser452Tyr					KCNA1_ENST00000543874.2_Intron	p.S452Y	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	2462	+			452	S -> Y (in Ref. 1; AAA36139).				A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1355C>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790696	0.70452	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96716	-4.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	M	0.87269	2.87	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	D	0.98623	1.0668	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	452	Q09470	KCNA1_HUMAN	Y	452	ENSP00000371985:S452Y	ENSP00000228858:S452Y	S	+	2	0	KCNA1	4892160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	TCT		0.483	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		160	1029	1	0	6.34276e-37	1	6.82602e-37	160	1029				
TMEM132E	124842	broad.mit.edu	37	17	32953262	32953262	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:32953262C>T	ENST00000321639.5	+	2	512	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	62						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGGGAGGCGCGGCCCCCGTC	0.731																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(184-186)Cgg>Tgg		transmembrane protein 132E							10.0	11.0	11.0					17																	32953262		2174	4249	6423	SO:0001583	missense	124842					integral to membrane		g.chr17:32953262C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.184C>T	17.37:g.32953262C>T	ENSP00000316532:p.Arg62Trp						p.R62W	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	512	+			62					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.184C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387866	0.61956	.	.	ENSG00000181291	ENST00000321639	T	0.11495	2.77	4.82	3.81	0.43845	.	0.445588	0.24391	N	0.038924	T	0.09512	0.0234	N	0.19112	0.55	0.21020	N	0.999805	D	0.60160	0.987	P	0.47705	0.555	T	0.11108	-1.0601	10	0.66056	D	0.02	-27.4389	8.5268	0.33309	0.1556:0.5772:0.2672:0.0	.	62	Q6IEE7	T132E_HUMAN	W	62	ENSP00000316532:R62W	ENSP00000316532:R62W	R	+	1	2	TMEM132E	29977375	0.834000	0.29399	0.889000	0.34880	0.942000	0.58702	1.415000	0.34748	0.913000	0.36797	0.478000	0.44815	CGG		0.731	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		7	37	0	0	0	1	0	7	37				
DSP	1832	broad.mit.edu	37	6	7571743	7571743	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:7571743C>G	ENST00000379802.3	+	14	2170	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	DSP_ENST00000418664.2_Missense_Mutation_p.S610C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	610	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAATACAGTCTCAGTTCACC	0.488																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1828-1830)tCt>tGt		desmoplakin							195.0	180.0	185.0					6																	7571743		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7571743C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1829C>G	6.37:g.7571743C>G	ENSP00000369129:p.Ser610Cys					DSP_ENST00000418664.2_Missense_Mutation_p.S610C	p.S610C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	14	2170	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	610			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1829C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988573	0.53934	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.75050	-0.57;-0.9	5.64	5.64	0.86602	.	0.352625	0.24412	N	0.038749	T	0.51126	0.1656	N	0.14661	0.345	0.35388	D	0.790495	B;B	0.28055	0.199;0.199	B;B	0.26864	0.074;0.074	T	0.58707	-0.7589	10	0.72032	D	0.01	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	657;610	Q4LE79;P15924	.;DESP_HUMAN	C	610;610;415	ENSP00000369129:S610C;ENSP00000396591:S610C	ENSP00000369129:S610C	S	+	2	0	DSP	7516742	0.998000	0.40836	0.964000	0.40570	0.988000	0.76386	3.766000	0.55280	2.664000	0.90586	0.655000	0.94253	TCT		0.488	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		41	678	0	0	0	1	0	41	678				
PTPN21	11099	broad.mit.edu	37	14	89016677	89016677	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:89016677G>A	ENST00000556564.1	-	2	369	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.L29L|RP11-507K2.3_ENST00000556328.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	29	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTATTAAGCAGTTGGATCCGG	0.567																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(85-87)Ctg>Ttg		protein tyrosine phosphatase, non-receptor type 21							120.0	115.0	116.0					14																	89016677		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:89016677G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.85C>T	14.37:g.89016677G>A						PTPN21_ENST00000328736.3_Silent_p.L29L|PTPN21_ENST00000554628.1_5'UTR	p.L29L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			2	369	-			29			FERM.			Silent	SNP	ENST00000556564.1	37	c.85C>T	CCDS9884.1																																																																																				0.567	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			86	322	0	0	0	1	0	86	322				
HCN1	348980	broad.mit.edu	37	5	45262241	45262241	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:45262241C>T	ENST00000303230.4	-	8	2512	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	819					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCGTCACGGGTTGAGGG	0.677																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2455-2457)Gtg>Atg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							31.0	33.0	32.0					5																	45262241		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262241C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2455G>A	5.37:g.45262241C>T	ENSP00000307342:p.Val819Met						p.V819M	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2512	-			819						Missense_Mutation	SNP	ENST00000303230.4	37	c.2455G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	3.532	-0.095427	0.07010	.	.	ENSG00000164588	ENST00000303230	D	0.97430	-4.38	5.02	3.2	0.36748	.	0.562530	0.16681	N	0.203943	D	0.91851	0.7421	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	D	0.85041	0.0923	10	0.62326	D	0.03	.	6.1826	0.20480	0.0:0.6436:0.1339:0.2225	.	819	O60741	HCN1_HUMAN	M	819	ENSP00000307342:V819M	ENSP00000307342:V819M	V	-	1	0	HCN1	45297998	0.033000	0.19621	0.118000	0.21660	0.722000	0.41435	1.321000	0.33678	0.596000	0.29794	0.655000	0.94253	GTG		0.677	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	102	0	0	0	1	0	9	102				
KRTAP5-3	387266	broad.mit.edu	37	11	1629414	1629414	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:1629414C>T	ENST00000399685.1	-	1	279	c.202G>A	c.(202-204)Ggc>Agc	p.G68S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	68	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCACAAGAGCCACAGACCCCC	0.667																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(202-204)Ggc>Agc		keratin associated protein 5-3							56.0	75.0	69.0					11																	1629414		2192	4296	6488	SO:0001583	missense	387266					keratin filament		g.chr11:1629414C>T	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.202G>A	11.37:g.1629414C>T	ENSP00000382592:p.Gly68Ser						p.G68S	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	279	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	68			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.202G>A	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.519678	0.00967	.	.	ENSG00000196224	ENST00000399685	T	0.01548	4.78	3.39	3.39	0.38822	.	.	.	.	.	T	0.03564	0.0102	M	0.66439	2.03	0.20975	N	0.999817	P	0.46142	0.873	P	0.46452	0.517	T	0.17653	-1.0362	9	0.06757	T	0.87	.	12.6532	0.56774	0.0:1.0:0.0:0.0	.	68	Q6L8H2	KRA53_HUMAN	S	68	ENSP00000382592:G68S	ENSP00000382592:G68S	G	-	1	0	KRTAP5-3	1585990	0.942000	0.31987	0.997000	0.53966	0.006000	0.05464	0.591000	0.23969	1.616000	0.50265	0.289000	0.19496	GGC		0.667	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			30	435	0	0	0	1	0	30	435				
NKX2-4	644524	broad.mit.edu	37	20	21376877	21376877	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:21376877C>T	ENST00000351817.4	-	2	1365	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	246					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						CTTGGCCTGCCGTTTCATCTT	0.711																																						ENST00000351817.4																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(736-738)cGg>cAg		NK2 homeobox 4							33.0	32.0	32.0					20																	21376877		2203	4300	6503	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376877C>T		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.737G>A	20.37:g.21376877C>T	ENSP00000345147:p.Arg246Gln						p.R246Q	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN			2	1365	-			246					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.737G>A	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394647	0.83011	.	.	ENSG00000125816	ENST00000351817	D	0.96396	-4.0	3.49	3.49	0.39957	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.56097	U	0.000036	D	0.97885	0.9305	M	0.84156	2.68	0.58432	D	0.999993	D	0.69078	0.997	D	0.72982	0.979	D	0.98753	1.0721	10	0.87932	D	0	.	14.7591	0.69593	0.0:1.0:0.0:0.0	.	246	Q9H2Z4	NKX24_HUMAN	Q	246	ENSP00000345147:R246Q	ENSP00000345147:R246Q	R	-	2	0	NKX2-4	21324877	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	7.095000	0.76952	1.781000	0.52344	0.484000	0.47621	CGG		0.711	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			11	45	0	0	0	1	0	11	45				
RP1	6101	broad.mit.edu	37	8	55533656	55533656	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:55533656G>A	ENST00000220676.1	+	2	278	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	44	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTACAAGAGCGGAGACCCCCA	0.547																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(130-132)Gga>Aga		retinitis pigmentosa 1 (autosomal dominant)							106.0	95.0	99.0					8																	55533656		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533656G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.130G>A	8.37:g.55533656G>A	ENSP00000220676:p.Gly44Arg						p.G44R	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	278	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	44			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.130G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162331	0.94727	.	.	ENSG00000104237	ENST00000220676	D	0.95272	-3.66	5.44	5.44	0.79542	Doublecortin domain (4);	0.000000	0.56097	D	0.000023	D	0.98182	0.9399	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99164	1.0862	10	0.87932	D	0	-18.28	19.2628	0.93974	0.0:0.0:1.0:0.0	.	44	P56715	RP1_HUMAN	R	44	ENSP00000220676:G44R	ENSP00000220676:G44R	G	+	1	0	RP1	55696209	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.790000	0.99075	2.545000	0.85829	0.650000	0.86243	GGA		0.547	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		13	287	0	0	0	1	0	13	287				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		10	1324	0	0	0	1	0	10	1324				
PRRC2C	23215	broad.mit.edu	37	1	171509737	171509737	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:171509737C>T	ENST00000338920.4	+	16	3363	c.3126C>T	c.(3124-3126)gtC>gtT	p.V1042V	PRRC2C_ENST00000426496.2_Silent_p.V1042V|PRRC2C_ENST00000392078.3_Silent_p.V1044V|PRRC2C_ENST00000367742.3_Silent_p.V1044V	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1042					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CCGAAAAGGTCACTGAAAAAG	0.468																																						ENST00000367742.3																			0											c.(3130-3132)gtC>gtT		proline-rich coiled-coil 2C							97.0	96.0	97.0					1																	171509737		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171509737C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3126C>T	1.37:g.171509737C>T						PRRC2C_ENST00000426496.2_Silent_p.V1042V|PRRC2C_ENST00000392078.3_Silent_p.V1044V|PRRC2C_ENST00000338920.4_Silent_p.V1042V	p.V1044V			Q9Y520	PRC2C_HUMAN			16	3374	+			1042					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.3132C>T	CCDS1296.2																																																																																				0.468	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		137	178	0	0	0	1	0	137	178				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	486	0	0	0	1	0	6	486				
COL4A2	1284	broad.mit.edu	37	13	111102671	111102671	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:111102671G>A	ENST00000360467.5	+	20	1515	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	403	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAGGCCTGCCGGGTGAGATGG	0.632																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1207-1209)ccG>ccA		collagen, type IV, alpha 2							56.0	60.0	59.0					13																	111102671		1924	4136	6060	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111102671G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1209G>A	13.37:g.111102671G>A							p.P403P	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		20	1515	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	403			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.1209G>A	CCDS41907.1																																																																																				0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		98	220	0	0	0	1	0	98	220				
VPS13D	55187	broad.mit.edu	37	1	12364627	12364627	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:12364627C>T	ENST00000358136.3	+	26	6411	c.6281C>T	c.(6280-6282)aCg>aTg	p.T2094M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGACAAGCACGGAGGAGCCC	0.522																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6280-6282)aCg>aTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							63.0	59.0	60.0					1																	12364627		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12364627C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6281C>T	1.37:g.12364627C>T	ENSP00000350854:p.Thr2094Met					VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	p.T2094M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	26	6411	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2094						Missense_Mutation	SNP	ENST00000358136.3	37	c.6281C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.278|3.278	-0.147578|-0.147578	0.06627|0.06627	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53206	.|0.63;0.64	5.94|5.94	1.31|1.31	0.21738|0.21738	.|.	.|1.074530	.|0.07029	.|N	.|0.828020	T|T	0.27798|0.27798	0.0684|0.0684	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13145	.|0.007;0.002	.|B;B	.|0.09377	.|0.004;0.002	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.33940	.|T	.|0.23	.|.	8.7283|8.7283	0.34483|0.34483	0.0:0.6002:0.0:0.3998|0.0:0.6002:0.0:0.3998	.|.	.|2094;2094	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	W|M	917|2094	.|ENSP00000348666:T2094M;ENSP00000350854:T2094M	.|ENSP00000348666:T2094M	R|T	+|+	1|2	2|0	VPS13D|VPS13D	12287214|12287214	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	0.256000|0.256000	0.18351|0.18351	0.362000|0.362000	0.24319|0.24319	-0.224000|-0.224000	0.12420|0.12420	CGG|ACG		0.522	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		26	159	0	0	0	1	0	26	159				
ATF5	22809	broad.mit.edu	37	19	50436260	50436260	+	Missense_Mutation	SNP	G	G	A	rs376565297	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:50436260G>A	ENST00000423777.2	+	3	1137	c.760G>A	c.(760-762)Gca>Aca	p.A254T	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.A254T|MIR4751_ENST00000578027.1_RNA	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	254	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	GAAGGAACGGGCAGAGTCCGT	0.667													G|||	4	0.000798722	0.003	0.0	5008	,	,		14028	0.0		0.0	False		,,,				2504	0.0				GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(760-762)Gca>Aca		activating transcription factor 5		G	THR/ALA,THR/ALA	1,4403		0,1,2201	37.0	40.0	39.0		760,760	4.5	0.9	19		39	0,8600		0,0,4300	no	missense,missense	ATF5	NM_001193646.1,NM_012068.5	58,58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	254/283,254/283	50436260	1,13003	2202	4300	6502	SO:0001583	missense	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50436260G>A	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.760G>A	19.37:g.50436260G>A	ENSP00000396954:p.Ala254Thr					CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.A254T	p.A254T	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	1137	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	254					B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.760G>A	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734599	0.69189	2.27E-4	0.0	ENSG00000169136	ENST00000423777	T	0.56776	0.44	4.54	4.54	0.55810	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.071375	0.53938	D	0.000044	T	0.66992	0.2846	M	0.69358	2.11	0.48511	D	0.999666	D	0.69078	0.997	D	0.72338	0.977	T	0.68880	-0.5292	10	0.56958	D	0.05	-6.7244	10.1231	0.42632	0.0:0.0:0.8:0.2	.	254	Q9Y2D1	ATF5_HUMAN	T	254	ENSP00000396954:A254T	ENSP00000396954:A254T	A	+	1	0	ATF5	55128072	1.000000	0.71417	0.950000	0.38849	0.353000	0.29299	7.197000	0.77814	2.079000	0.62486	0.448000	0.29417	GCA		0.667	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			12	212	0	0	0	1	0	12	212				
FARP2	9855	broad.mit.edu	37	2	242312551	242312551	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242312551T>A	ENST00000264042.3	+	2	199	c.29T>A	c.(28-30)gTc>gAc	p.V10D	FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D|FARP2_ENST00000545004.1_Missense_Mutation_p.V10D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	10					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACATACAGAGTCCTGCAGACT	0.463																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(28-30)gTc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							57.0	59.0	58.0					2																	242312551		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242312551T>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.29T>A	2.37:g.242312551T>A	ENSP00000264042:p.Val10Asp					FARP2_ENST00000545004.1_Missense_Mutation_p.V10D|FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D	p.V10D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	2	199	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	10					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.29T>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876107	0.33162	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082;ENST00000445489	T;D;D;T;T	0.83591	-1.11;-1.73;-1.74;-0.31;-1.13	5.65	-2.92	0.05615	.	0.515409	0.19294	N	0.117813	T	0.80737	0.4680	L	0.57536	1.79	0.27964	N	0.936655	P;P;P	0.46512	0.879;0.773;0.664	P;P;B	0.48270	0.572;0.572;0.235	T	0.76250	-0.3028	10	0.49607	T	0.09	.	11.2139	0.48815	0.0:0.4967:0.0:0.5033	.	10;10;10	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	10	ENSP00000264042:V10D;ENSP00000443876:V10D;ENSP00000362384:V10D;ENSP00000393376:V10D;ENSP00000388167:V10D	ENSP00000264042:V10D	V	+	2	0	FARP2	241961224	0.907000	0.30839	0.057000	0.19452	0.532000	0.34746	1.218000	0.32467	-0.815000	0.04346	0.460000	0.39030	GTC		0.463	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			99	177	0	0	0	1	0	99	177				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	205	0	0	0	1	0	6	205				
COL15A1	1306	broad.mit.edu	37	9	101802811	101802811	+	Silent	SNP	C	C	T	rs146647282	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:101802811C>T	ENST00000375001.3	+	23	2907	c.2484C>T	c.(2482-2484)gaC>gaT	p.D828D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	828	Collagen-like 3.|Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGGCCGGACGGGTTGCCTG	0.587																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2482-2484)gaC>gaT		collagen, type XV, alpha 1		C		0,4406		0,0,2203	179.0	155.0	163.0		2484	-5.3	0.0	9	dbSNP_134	163	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	COL15A1	NM_001855.3		0,7,6496	TT,TC,CC		0.0814,0.0,0.0538		828/1389	101802811	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101802811C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2484C>T	9.37:g.101802811C>T							p.D828D	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			23	2907	+		Acute lymphoblastic leukemia(62;0.0562)	828			Triple-helical region 4 (COL4).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.2484C>T	CCDS35081.1																																																																																				0.587	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		167	143	0	0	0	1	0	167	143				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		82	79	0	0	0	1	0	82	79				
SLC6A1	6529	broad.mit.edu	37	3	11067497	11067497	+	Silent	SNP	C	C	T	rs144034291		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:11067497C>T	ENST00000287766.4	+	9	1309	c.888C>T	c.(886-888)taC>taT	p.Y296Y	SLC6A1_ENST00000536032.1_Silent_p.Y118Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	296					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TCTTCTCATACGGGCTGGGCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17698	0.0		0.001	False		,,,				2504	0.0					ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(886-888)taC>taT		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)	C		1,4405	2.1+/-5.4	0,1,2202	108.0	110.0	109.0		888	-3.3	1.0	3	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	SLC6A1	NM_003042.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		296/600	11067497	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067497C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.888C>T	3.37:g.11067497C>T						SLC6A1_ENST00000536032.1_Silent_p.Y118Y	p.Y296Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	9	1309	+		Ovarian(110;0.0392)	296					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.888C>T	CCDS2603.1																																																																																				0.532	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		63	370	0	0	0	1	0	63	370				
PLEKHG1	57480	broad.mit.edu	37	6	151054871	151054871	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:151054871G>A	ENST00000358517.2	+	2	265	c.54G>A	c.(52-54)tcG>tcA	p.S18S	PLEKHG1_ENST00000367328.1_Silent_p.S18S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	18							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CATCATCCTCGGCCTCTTCCC	0.542																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(52-54)tcG>tcA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							97.0	97.0	97.0					6																	151054871		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151054871G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.54G>A	6.37:g.151054871G>A						PLEKHG1_ENST00000358517.2_Silent_p.S18S	p.S18S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	3	366	+			18					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.54G>A	CCDS34552.1																																																																																				0.542	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			6	401	0	0	0	1	0	6	401				
EXOG	9941	broad.mit.edu	37	3	38539118	38539118	+	Splice_Site	SNP	A	A	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:38539118A>T	ENST00000287675.5	+	2	259		c.e2-1		EXOG_ENST00000422077.2_Intron|EXOG_ENST00000358249.2_Splice_Site	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like						DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TTTCATTTTTAGGATCTGCAG	0.373																																						ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.e2-1		endo/exonuclease (5'-3'), endonuclease G-like							35.0	36.0	36.0					3																	38539118		2203	4298	6501	SO:0001630	splice_region_variant	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38539118A>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.164-1A>T	3.37:g.38539118A>T						EXOG_ENST00000422077.2_Intron|EXOG_ENST00000358249.2_Splice_Site		NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			2	259	+								A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Splice_Site	SNP	ENST00000287675.5	37		CCDS2680.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884753	0.51908	.	.	ENSG00000157036	ENST00000287675;ENST00000453767	.	.	.	5.16	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5322	0.50616	0.866:0.0:0.0:0.134	.	.	.	.	.	-1	.	.	.	+	.	.	EXOG	38514122	1.000000	0.71417	0.094000	0.20943	0.430000	0.31655	6.205000	0.72148	0.966000	0.38159	0.460000	0.39030	.		0.373	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107	Intron	10	168	0	0	0	1	0	10	168				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	181	0	0	0	1	0	6	181				
LRBA	987	broad.mit.edu	37	4	151738335	151738335	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:151738335A>G	ENST00000357115.3	-	31	5489	c.5246T>C	c.(5245-5247)gTc>gCc	p.V1749A	LRBA_ENST00000535741.1_Missense_Mutation_p.V1749A|LRBA_ENST00000507224.1_Missense_Mutation_p.V1749A|LRBA_ENST00000510413.1_Missense_Mutation_p.V1749A	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1749						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AACCACACTGACAGCATTGGT	0.398																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5245-5247)gTc>gCc		LPS-responsive vesicle trafficking, beach and anchor containing							193.0	177.0	183.0					4																	151738335		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151738335A>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5246T>C	4.37:g.151738335A>G	ENSP00000349629:p.Val1749Ala					LRBA_ENST00000510413.1_Missense_Mutation_p.V1749A|LRBA_ENST00000357115.3_Missense_Mutation_p.V1749A|LRBA_ENST00000507224.1_Missense_Mutation_p.V1749A	p.V1749A			P50851	LRBA_HUMAN			31	5719	-	all_hematologic(180;0.151)		1749					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5246T>C	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.384896|4.384896	0.82792|0.82792	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.58060	.|0.77;0.92;0.77;0.36	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.860939	.|0.10195	.|N	.|0.704143	T|T	0.72875|0.72875	0.3515|0.3515	M|M	0.72479|0.72479	2.2|2.2	0.58432|0.58432	D|D	0.999994|0.999994	.|P;D	.|0.67145	.|0.745;0.996	.|B;D	.|0.76071	.|0.251;0.987	T|T	0.63184|0.63184	-0.6694|-0.6694	5|10	.|0.27082	.|T	.|0.32	.|.	16.4323|16.4323	0.83853|0.83853	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1749;1749	.|P50851;P50851-2	.|LRBA_HUMAN;.	P|A	402|1749	.|ENSP00000446299:V1749A;ENSP00000421552:V1749A;ENSP00000349629:V1749A;ENSP00000422180:V1749A	.|ENSP00000349629:V1749A	S|V	-|-	1|2	0|0	LRBA|LRBA	151957785|151957785	0.999000|0.999000	0.42202|0.42202	0.971000|0.971000	0.41717|0.41717	0.980000|0.980000	0.70556|0.70556	4.766000|4.766000	0.62279|0.62279	2.281000|2.281000	0.76405|0.76405	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.398	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			84	259	0	0	0	1	0	84	259				
SLC2A10	81031	broad.mit.edu	37	20	45354423	45354423	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:45354423G>A	ENST00000359271.2	+	2	998	c.748G>A	c.(748-750)Gtg>Atg	p.V250M		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	250					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCAGCCCAACGTGCTGTGCTA	0.622																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(748-750)Gtg>Atg		solute carrier family 2 (facilitated glucose transporter), member 10							114.0	103.0	107.0					20																	45354423		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354423G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.748G>A	20.37:g.45354423G>A	ENSP00000352216:p.Val250Met						p.V250M	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	998	+		Myeloproliferative disorder(115;0.0122)	250					A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.748G>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586473	0.66105	.	.	ENSG00000197496	ENST00000359271	T	0.76448	-1.02	5.86	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057050	0.64402	D	0.000002	D	0.86146	0.5863	M	0.76170	2.325	0.49798	D	0.999825	D	0.89917	1.0	D	0.76071	0.987	D	0.87084	0.2168	10	0.87932	D	0	-18.7043	10.4704	0.44633	0.0688:0.0:0.7961:0.1351	.	250	O95528	GTR10_HUMAN	M	250	ENSP00000352216:V250M	ENSP00000352216:V250M	V	+	1	0	SLC2A10	44787830	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	4.571000	0.60879	1.432000	0.47375	0.655000	0.94253	GTG		0.622	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			83	599	0	0	0	1	0	83	599				
FZD1	8321	broad.mit.edu	37	7	90894600	90894600	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:90894600C>T	ENST00000287934.2	+	1	818	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	135	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCATCATGCCCAACCTGCTGG	0.617																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(403-405)ccC>ccT		frizzled family receptor 1							168.0	144.0	152.0					7																	90894600		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894600C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.405C>T	7.37:g.90894600C>T							p.P135P	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	818	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		135			FZ.		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.405C>T	CCDS5620.1																																																																																				0.617	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		23	522	0	0	0	1	0	23	522				
LRRC7	57554	broad.mit.edu	37	1	70541973	70541973	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70541973C>A	ENST00000035383.5	+	22	4360	c.4330C>A	c.(4330-4332)Cca>Aca	p.P1444T	LRRC7_ENST00000310961.5_Missense_Mutation_p.P1402T|LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1444						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGATGGATATCCAGAGCAGGT	0.463																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(4204-4206)Cca>Aca		leucine rich repeat containing 7							60.0	61.0	60.0					1																	70541973		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541973C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4330C>A	1.37:g.70541973C>A	ENSP00000035383:p.Pro1444Thr					LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1444T	p.P1402T			Q96NW7	LRRC7_HUMAN			24	4622	+			1444					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4204C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575374	0.65878	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.36520	1.25;1.31;2.41	6.16	6.16	0.99307	PDZ/DHR/GLGF (1);	0.129386	0.53938	D	0.000049	T	0.20414	0.0491	N	0.08118	0	0.54753	D	0.999982	P;P;P	0.44429	0.787;0.835;0.608	B;P;B	0.47645	0.372;0.553;0.18	T	0.04930	-1.0917	10	0.37606	T	0.19	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	728;1397;1444	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	1402;1444;728;1220	ENSP00000309245:P1402T;ENSP00000035383:P1444T;ENSP00000394867:P728T	ENSP00000035383:P1444T	P	+	1	0	LRRC7	70314561	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.176000	0.71955	2.937000	0.99478	0.650000	0.86243	CCA		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		32	196	1	0	1.55811e-20	1	1.65321e-20	32	196				
BFSP2	8419	broad.mit.edu	37	3	133119141	133119141	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:133119141C>T	ENST00000302334.2	+	1	303	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	72	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTTGGGTGCCCGTGTGACCCG	0.667																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(214-216)Cgt>Tgt		beaded filament structural protein 2, phakinin							45.0	51.0	49.0					3																	133119141		2203	4299	6502	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119141C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.214C>T	3.37:g.133119141C>T	ENSP00000304987:p.Arg72Cys						p.R72C	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	303	+			72			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.214C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344701	0.95807	.	.	ENSG00000170819	ENST00000302334	D	0.84223	-1.82	5.95	5.95	0.96441	.	0.205916	0.34507	N	0.003911	D	0.90752	0.7097	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.60173	0.87	D	0.88493	0.3077	10	0.35671	T	0.21	-9.7541	20.3789	0.98926	0.0:1.0:0.0:0.0	.	72	Q13515	BFSP2_HUMAN	C	72	ENSP00000304987:R72C	ENSP00000304987:R72C	R	+	1	0	BFSP2	134601831	1.000000	0.71417	0.933000	0.37362	0.992000	0.81027	6.977000	0.76141	2.826000	0.97356	0.563000	0.77884	CGT		0.667	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			47	264	0	0	0	1	0	47	264				
GRIA1	2890	broad.mit.edu	37	5	153026597	153026597	+	Silent	SNP	G	G	A	rs370782311		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:153026597G>A	ENST00000285900.5	+	3	673	c.330G>A	c.(328-330)acG>acA	p.T110T	GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.T41T|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000448073.4_Silent_p.T120T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	110					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.T110T(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCTTCATTACGCCGAGCTTTC	0.498																																						ENST00000285900.5																			2	Substitution - coding silent(2)	p.T110T(2)	endometrium(2)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(328-330)acG>acA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	,	1,4405		0,1,2202	169.0	154.0	159.0		330,330	-8.9	0.0	5		159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	110/907,110/907	153026597	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153026597G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.330G>A	5.37:g.153026597G>A						GRIA1_ENST00000521843.2_Silent_p.T41T|GRIA1_ENST00000448073.4_Silent_p.T120T|GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000518142.1_Intron	p.T110T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	673	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	110					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.330G>A	CCDS4322.1																																																																																				0.498	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			108	346	0	0	0	1	0	108	346				
OR2M4	26245	broad.mit.edu	37	1	248403055	248403055	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:248403055G>A	ENST00000306687.1	+	1	825	c.825G>A	c.(823-825)tcG>tcA	p.S275S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	275					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGATGGTGTCGGCCTTCTACA	0.488																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(823-825)tcG>tcA		olfactory receptor, family 2, subfamily M, member 4							122.0	105.0	111.0					1																	248403055		2203	4300	6503	SO:0001819	synonymous_variant	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403055G>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.825G>A	1.37:g.248403055G>A							p.S275S	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	825	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		275					Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	c.825G>A	CCDS31108.1																																																																																				0.488	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		54	296	0	0	0	1	0	54	296				
NLRP12	91662	broad.mit.edu	37	19	54314230	54314230	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54314230T>C	ENST00000324134.6	-	3	851	c.683A>G	c.(682-684)cAc>cGc	p.H228R	NLRP12_ENST00000391772.1_Missense_Mutation_p.H228R|NLRP12_ENST00000354278.3_Missense_Mutation_p.H228R|NLRP12_ENST00000535162.1_Missense_Mutation_p.H228R|NLRP12_ENST00000351894.4_Missense_Mutation_p.H228R|NLRP12_ENST00000391773.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391775.3_Missense_Mutation_p.H228R|NLRP12_ENST00000345770.5_Missense_Mutation_p.H228R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	228	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATCACCTTGTGTGCCAGCAT	0.577																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(682-684)cAc>cGc		NLR family, pyrin domain containing 12							91.0	69.0	77.0					19																	54314230		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314230T>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.683A>G	19.37:g.54314230T>C	ENSP00000319377:p.His228Arg					NLRP12_ENST00000391775.3_Missense_Mutation_p.H228R|NLRP12_ENST00000391772.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391773.1_Missense_Mutation_p.H228R|NLRP12_ENST00000351894.4_Missense_Mutation_p.H228R|NLRP12_ENST00000345770.5_Missense_Mutation_p.H228R|NLRP12_ENST00000354278.3_Missense_Mutation_p.H228R|NLRP12_ENST00000535162.1_Missense_Mutation_p.H228R	p.H228R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	851	-	Ovarian(34;0.19)		228			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.683A>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	0.687	-0.795867	0.02862	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.47	1.18	0.20946	NACHT nucleoside triphosphatase (1);	0.313100	0.23263	N	0.050104	T	0.42359	0.1199	N	0.01493	-0.835	0.80722	D	1	B;B;B;B	0.26935	0.134;0.064;0.134;0.164	B;B;B;B	0.26517	0.031;0.031;0.031;0.07	T	0.45101	-0.9284	10	0.02654	T	1	.	7.0128	0.24871	0.0:0.2972:0.0:0.7028	.	228;228;228;228	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	R	228	ENSP00000319377:H228R;ENSP00000438030:H228R;ENSP00000340473:H228R;ENSP00000346231:H228R;ENSP00000375655:H228R;ENSP00000375653:H228R;ENSP00000375652:H228R	ENSP00000319377:H228R	H	-	2	0	NLRP12	59006042	0.996000	0.38824	0.973000	0.42090	0.891000	0.51852	0.716000	0.25836	0.224000	0.20940	0.254000	0.18369	CAC		0.577	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	462	0	0	0	1	0	13	462				
SNHG14	104472715	broad.mit.edu	37	15	25453246	25453246	+	RNA	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:25453246C>T	ENST00000424208.1	+	0	2384				SNORD115-22_ENST00000364456.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGATGAGAACCTTATATTTT	0.532																																						ENST00000424208.1																			0																				329.0	339.0	336.0					15																	25453246		876	1991	2867			0							g.chr15:25453246C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25453246C>T						SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2384	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.532	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			11	1082	0	0	0	1	0	11	1082				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		7	1052	0	0	0	1	0	7	1052				
MTG2	26164	broad.mit.edu	37	20	60772965	60772965	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:60772965G>A	ENST00000370823.3	+	4	428	c.410G>A	c.(409-411)gGa>gAa	p.G137E	MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	137	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GGTTTCAGTGGAGAAGATGGA	0.562																																						ENST00000370823.3																			0											c.(409-411)gGa>gAa		mitochondrial ribosome-associated GTPase 2							141.0	123.0	129.0					20																	60772965		2203	4300	6503	SO:0001583	missense	26164							g.chr20:60772965G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.410G>A	20.37:g.60772965G>A	ENSP00000359859:p.Gly137Glu					MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000436421.2_Intron	p.G137E	NM_015666.3	NP_056481.1					4	428	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.410G>A	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344696	0.61073	.	.	ENSG00000101181	ENST00000370823;ENST00000448254	T;T	0.61510	0.1;0.1	5.51	5.51	0.81932	GTP1/OBG subdomain (3);	0.000000	0.85682	D	0.000000	D	0.86657	0.5985	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92167	0.5740	10	0.87932	D	0	-20.722	17.2039	0.86913	0.0:0.0:1.0:0.0	.	137;137	Q5JXJ0;Q9H4K7	.;GTPB5_HUMAN	E	137	ENSP00000359859:G137E;ENSP00000414693:G137E	ENSP00000359859:G137E	G	+	2	0	GTPBP5	60206360	1.000000	0.71417	0.130000	0.21974	0.055000	0.15305	7.735000	0.84939	2.592000	0.87571	0.650000	0.86243	GGA		0.562	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		23	520	0	0	0	1	0	23	520				
ASTN2	23245	broad.mit.edu	37	9	119976795	119976795	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:119976795T>A	ENST00000313400.4	-	3	957	c.857A>T	c.(856-858)gAg>gTg	p.E286V	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E286V|ASTN2_ENST00000361209.2_Missense_Mutation_p.E286V			O75129	ASTN2_HUMAN	astrotactin 2	286					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GATGGGAGTCTCCCGGATGGG	0.617																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(856-858)gAg>gTg		astrotactin 2							83.0	78.0	80.0					9																	119976795		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976795T>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.857A>T	9.37:g.119976795T>A	ENSP00000314038:p.Glu286Val					ASTN2_ENST00000373996.3_Missense_Mutation_p.E286V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.E286V	p.E286V			O75129	ASTN2_HUMAN			3	957	-			286					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.857A>T		.	.	.	.	.	.	.	.	.	.	T	17.28	3.349878	0.61183	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.22743	2.09;2.08;2.13;1.94	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	T	0.31544	0.0800	N	0.24115	0.695	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.83275	0.996;0.991;0.96	T	0.05616	-1.0874	9	.	.	.	-22.8697	14.6696	0.68934	0.0:0.0:0.0:1.0	.	286;286;286	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	V	286;286;13;286	ENSP00000314038:E286V;ENSP00000363108:E286V;ENSP00000363098:E13V;ENSP00000354504:E286V	.	E	-	2	0	ASTN2	119016616	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.662000	0.83803	1.935000	0.56089	0.533000	0.62120	GAG		0.617	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		17	208	0	0	0	1	0	17	208				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			8	228	0	0	0	1	0	8	228				
ZSCAN10	84891	broad.mit.edu	37	16	3140385	3140385	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:3140385C>T	ENST00000252463.2	-	5	972	c.885G>A	c.(883-885)gcG>gcA	p.A295A	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Silent_p.A213A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	295					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCCGCAGTCCGCGCAGATGA	0.632																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(883-885)gcG>gcA		zinc finger and SCAN domain containing 10							50.0	52.0	52.0					16																	3140385		2165	4244	6409	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140385C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.885G>A	16.37:g.3140385C>T						ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR	p.A295A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	972	-			295					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.885G>A	CCDS10493.1																																																																																				0.632	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		84	304	0	0	0	1	0	84	304				
FUT6	2528	broad.mit.edu	37	19	5831521	5831521	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:5831521C>T	ENST00000318336.4	-	3	2252	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron|FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	353					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCCGCTATGCCGCGTGTCTG	0.632																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(1057-1059)gGc>gAc		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							70.0	80.0	77.0					19																	5831521		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831521C>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.1058G>A	19.37:g.5831521C>T	ENSP00000313398:p.Gly353Asp					FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D	p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	2252	-			353					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.1058G>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544153	0.27563	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	3.23	3.23	0.37069	.	.	.	.	.	T	0.04634	0.0126	N	0.00182	-1.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	9	0.06236	T	0.91	.	12.6777	0.56903	0.0:1.0:0.0:0.0	.	353	P51993	FUT6_HUMAN	D	353	ENSP00000431708:G353D;ENSP00000432954:G353D;ENSP00000313398:G353D;ENSP00000286955:G353D	ENSP00000286955:G353D	G	-	2	0	FUT6	5782521	0.004000	0.15560	0.326000	0.25389	0.012000	0.07955	0.883000	0.28200	1.743000	0.51761	0.436000	0.28706	GGC		0.632	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		6	385	0	0	0	1	0	6	385				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	520	0	0	0	1	0	7	520				
ABCG8	64241	broad.mit.edu	37	2	44102445	44102445	+	Missense_Mutation	SNP	C	C	T	rs202028007		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:44102445C>T	ENST00000272286.2	+	11	1739	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	550	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGGCCGCCGCGGCCCTGCTC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16315	0.001		0.0	False		,,,				2504	0.0					ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1648-1650)gCg>gTg		ATP-binding cassette, sub-family G (WHITE), member 8							67.0	66.0	66.0					2																	44102445		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44102445C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1649C>T	2.37:g.44102445C>T	ENSP00000272286:p.Ala550Val						p.A550V	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			11	1739	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	550			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1649C>T	CCDS1815.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.22	2.768002	0.49680	.	.	ENSG00000143921	ENST00000272286	T	0.74947	-0.89	4.73	3.85	0.44370	ABC-2 type transporter (1);	0.167185	0.52532	D	0.000066	T	0.81650	0.4867	M	0.65975	2.015	0.22968	N	0.998499	D;D	0.71674	0.998;0.998	P;P	0.61658	0.827;0.892	T	0.73528	-0.3954	10	0.42905	T	0.14	.	12.9331	0.58299	0.0:0.9209:0.0:0.0791	.	549;550	Q9H221-2;Q9H221	.;ABCG8_HUMAN	V	550	ENSP00000272286:A550V	ENSP00000272286:A550V	A	+	2	0	ABCG8	43955949	0.954000	0.32549	0.001000	0.08648	0.001000	0.01503	5.484000	0.66844	0.984000	0.38629	0.462000	0.41574	GCG		0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		112	235	0	0	0	1	0	112	235				
TM9SF2	9375	broad.mit.edu	37	13	100153955	100153955	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:100153955G>A	ENST00000376387.4	+	1	285	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	LINC00449_ENST00000366259.2_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	32					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GGCCCGCGCCGGAGCGGCGCT	0.667																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(94-96)cGg>cAg		transmembrane 9 superfamily member 2							39.0	46.0	44.0					13																	100153955		2200	4298	6498	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100153955G>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.95G>A	13.37:g.100153955G>A	ENSP00000365567:p.Arg32Gln						p.R32Q	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			1	285	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		32					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.95G>A	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177171	0.38413	.	.	ENSG00000125304	ENST00000376387	T	0.41400	1.0	4.66	-3.93	0.04143	.	0.587551	0.19001	N	0.125345	T	0.21550	0.0519	N	0.14661	0.345	0.09310	N	1	B;P	0.35908	0.052;0.527	B;B	0.21360	0.004;0.034	T	0.01460	-1.1349	10	0.23302	T	0.38	1.5671	21.9879	0.99964	0.0:0.8332:0.1668:0.0	.	32;32	E9PHW5;Q99805	.;TM9S2_HUMAN	Q	32	ENSP00000365567:R32Q	ENSP00000365567:R32Q	R	+	2	0	TM9SF2	98951956	0.018000	0.18449	0.552000	0.28243	0.996000	0.88848	-0.549000	0.06041	-0.599000	0.05798	0.655000	0.94253	CGG		0.667	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			6	384	0	0	0	1	0	6	384				
MIB1	57534	broad.mit.edu	37	18	19353645	19353645	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:19353645G>A	ENST00000261537.6	+	4	856	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	198	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGTCCTCTGGGATAATGGTGC	0.428																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(592-594)Gat>Aat		mindbomb E3 ubiquitin protein ligase 1							101.0	86.0	91.0					18																	19353645		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19353645G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.592G>A	18.37:g.19353645G>A	ENSP00000261537:p.Asp198Asn					MIB1_ENST00000578646.1_3'UTR	p.D198N	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		4	856	+			198			MIB/HERC2 2.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.592G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795298	0.90453	.	.	ENSG00000101752	ENST00000261537	T	0.39406	1.08	5.36	5.36	0.76844	Mib-herc2 (2);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.63444	-0.6636	10	0.30078	T	0.28	-20.2918	19.0873	0.93209	0.0:0.0:1.0:0.0	.	198	Q86YT6	MIB1_HUMAN	N	198	ENSP00000261537:D198N	ENSP00000261537:D198N	D	+	1	0	MIB1	17607643	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.508000	0.84585	0.655000	0.94253	GAT		0.428	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		23	543	0	0	0	1	0	23	543				
LILRA2	11027	broad.mit.edu	37	19	55086927	55086927	+	Missense_Mutation	SNP	C	C	G	rs560494676	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55086927C>G	ENST00000251377.3	+	6	993	c.860C>G	c.(859-861)cCc>cGc	p.P287R	LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	287	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGTGAGCCCCTCCCACGGG	0.637													c|||	7	0.00139776	0.0	0.0029	5008	,	,		16176	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(859-861)cCc>cGc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							51.0	53.0	52.0					19																	55086927		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086927C>G	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.860C>G	19.37:g.55086927C>G	ENSP00000251377:p.Pro287Arg					LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R	p.P287R						GBM - Glioblastoma multiforme(193;0.0963)	6	993	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.860C>G	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.616861	0.00118	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	2.8	-5.59	0.02505	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	10.104300	0.00481	N	0.000131	T	0.07052	0.0179	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.17098	0.017;0.002;0.002;0.001	T	0.37596	-0.9699	10	0.05959	T	0.93	.	3.4105	0.07356	0.2975:0.4556:0.1328:0.1142	.	287;275;287;287	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	287;287;287;287;275	ENSP00000388131:P287R;ENSP00000251377:P287R;ENSP00000375618:P287R;ENSP00000251376:P287R;ENSP00000375617:P275R	ENSP00000251376:P287R	P	+	2	0	LILRA2	59778739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.336000	0.00507	-2.650000	0.00424	-3.580000	0.00029	CCC		0.637	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			7	505	0	0	0	1	0	7	505				
SDHAP1	255812	broad.mit.edu	37	3	195711436	195711436	+	RNA	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:195711436C>G	ENST00000427841.1	-	0	511					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AACAGACCACCAGAGCACCCA	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711436C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711436C>G								NR_003264.2						0	511	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			10	158	0	0	0	1	0	10	158				
GLI2	2736	broad.mit.edu	37	2	121742187	121742187	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:121742187G>A	ENST00000452319.1	+	12	1884	c.1824G>A	c.(1822-1824)ccG>ccA	p.P608P	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.P608P|GLI2_ENST00000314490.11_Silent_p.P280P					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCGCACACCGCTGCTCAAAG	0.652																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1822-1824)ccG>ccA		GLI family zinc finger 2							77.0	71.0	73.0					2																	121742187		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121742187G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1824G>A	2.37:g.121742187G>A						GLI2_ENST00000361492.4_Silent_p.P608P|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.P280P	p.P608P			P10070	GLI2_HUMAN			12	1884	+	Renal(3;0.0496)	Prostate(154;0.0623)	608						Silent	SNP	ENST00000452319.1	37	c.1824G>A	CCDS33283.1																																																																																				0.652	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		41	300	0	0	0	1	0	41	300				
NELL1	4745	broad.mit.edu	37	11	21556023	21556023	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:21556023C>T	ENST00000357134.5	+	16	1901	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	NELL1_ENST00000298925.5_Silent_p.D611D|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.D526D|NELL1_ENST00000532434.1_Intron	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	583	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTTTCCATGACGATGGGACCT	0.527																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1831-1833)gaC>gaT		NEL-like 1 (chicken)							183.0	149.0	161.0					11																	21556023		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21556023C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1749C>T	11.37:g.21556023C>T						NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Silent_p.D583D|NELL1_ENST00000325319.5_Silent_p.D526D	p.D611D			Q92832	NELL1_HUMAN			17	1986	+			583			EGF-like 6; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.1833C>T	CCDS7855.1																																																																																				0.527	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		63	261	0	0	0	1	0	63	261				
EML1	2009	broad.mit.edu	37	14	100405553	100405553	+	Silent	SNP	G	G	A	rs553895497		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:100405553G>A	ENST00000262233.6	+	21	2350	c.2211G>A	c.(2209-2211)tcG>tcA	p.S737S	EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	737	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAGAAGGCTCGGACGGAACCG	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17878	0.0		0.0	False		,,,				2504	0.0					ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2209-2211)tcG>tcA		echinoderm microtubule associated protein like 1							110.0	98.0	102.0					14																	100405553		2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405553G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2211G>A	14.37:g.100405553G>A						EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S	p.S737S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			21	2350	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	737					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.2211G>A	CCDS32155.1																																																																																				0.582	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		42	233	0	0	0	1	0	42	233				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.H311H	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		10	977	0	0	0	1	0	10	977				
PRR5L	79899	broad.mit.edu	37	11	36472814	36472814	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36472814T>A	ENST00000378867.3	+	9	996	c.641T>A	c.(640-642)gTg>gAg	p.V214E	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	214					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGGAGCTGGTGAAGCAAGTG	0.527																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(640-642)gTg>gAg		proline rich 5 like							188.0	158.0	168.0					11																	36472814		2202	4298	6500	SO:0001583	missense	79899							g.chr11:36472814T>A		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.641T>A	11.37:g.36472814T>A	ENSP00000368144:p.Val214Glu					PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E|PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000527487.1_Intron	p.V214E	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			9	996	+			214					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.641T>A	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144704	0.77888	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.35973	1.41;1.28;1.41	5.16	4.02	0.46733	.	0.070757	0.56097	D	0.000027	T	0.51652	0.1687	M	0.72894	2.215	0.53688	D	0.999979	D;D	0.71674	0.99;0.998	P;P	0.58266	0.836;0.759	T	0.54166	-0.8334	10	0.87932	D	0	-8.0315	10.571	0.45200	0.0:0.0773:0.0:0.9227	.	86;214	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	E	214;141;214	ENSP00000435050:V214E;ENSP00000310103:V141E;ENSP00000368144:V214E	ENSP00000310103:V141E	V	+	2	0	PRR5L	36429390	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.302000	0.59092	0.810000	0.34279	0.260000	0.18958	GTG		0.527	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		69	294	0	0	0	1	0	69	294				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		63	189	1	0	5.80444e-35	1	6.21707e-35	63	189				
HNRNPCL1	343069	broad.mit.edu	37	1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	rs200282759	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	229						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(685-687)Atg>Gtg		heterogeneous nuclear ribonucleoprotein C-like 1							110.0	112.0	112.0					1																	12907458		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907458T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.685A>G	1.37:g.12907458T>C	ENSP00000365370:p.Met229Val						p.M229V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	910	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.685A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.367597	0.00015	.	.	ENSG00000179172	ENST00000317869	T	0.08807	3.05	1.09	-1.67	0.08238	.	33.202900	0.00166	N	0.000000	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.24483	T	0.36	.	3.6976	0.08371	0.0:0.2307:0.2991:0.4701	.	229	O60812	HNRCL_HUMAN	V	229	ENSP00000365370:M229V	ENSP00000365370:M229V	M	-	1	0	HNRNPCL1	12830045	0.986000	0.35501	0.919000	0.36401	0.078000	0.17371	0.226000	0.17776	-0.440000	0.07211	-2.072000	0.00384	ATG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		5	217	0	0	0	1	0	5	217				
MRPL57	78988	broad.mit.edu	37	13	21751133	21751133	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:21751133C>T	ENST00000309594.4	+	2	156	c.78C>T	c.(76-78)ttC>ttT	p.F26F	SKA3_ENST00000314759.5_5'Flank|SKA3_ENST00000400018.3_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		26					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-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;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GGCCGCGGTTCGTGTCGTTGC	0.662																																						ENST00000309594.4																			0				kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5						c.(76-78)ttC>ttT		mitochondrial ribosomal protein 63							25.0	27.0	26.0					13																	21751133		2173	4265	6438	SO:0001819	synonymous_variant	78988							g.chr13:21751133C>T																												ENST00000309594.4:c.78C>T	13.37:g.21751133C>T							p.F26F	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)	2	156	+		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	26					A2A332	Silent	SNP	ENST00000309594.4	37	c.78C>T	CCDS9296.1																																																																																				0.662	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2			42	267	0	0	0	1	0	42	267				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		9	1755	0	0	0	1	0	9	1755				
TTN	7273	broad.mit.edu	37	2	179397543	179397543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:179397543C>T	ENST00000591111.1	-	308	99100	c.98876G>A	c.(98875-98877)tGg>tAg	p.W32959*	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W34600*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32959					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTGTTCCCATCTTGAAAG	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(103798-103800)tGg>tAg		titin							108.0	102.0	104.0					2																	179397543		1990	4160	6150	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397543C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98876G>A	2.37:g.179397543C>T	ENSP00000465570:p.Trp32959*					TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W32959*|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000590807.1_RNA	p.W34600*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	104023	-			32959					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.103799G>A		.	.	.	.	.	.	.	.	.	.	C	73	115.725762	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6737	0.95921	0.0:1.0:0.0:0.0	.	.	.	.	X	32032;25535;25727;25660;25532	.	ENSP00000340554:W25727X	W	-	2	0	TTN	179105789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.757000	0.94681	0.462000	0.41574	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	161	0	0	0	1	0	79	161				
PDE3A	5139	broad.mit.edu	37	12	20787935	20787935	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:20787935C>A	ENST00000359062.3	+	8	1986	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	649					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGAGAGAGCCTCTGAGGAAA	0.443																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1945-1947)cCt>cAt		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						140.0	119.0	126.0					12																	20787935		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20787935C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1946C>A	12.37:g.20787935C>A	ENSP00000351957:p.Pro649His					PDE3A_ENST00000544307.1_3'UTR	p.P649H	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			8	1986	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	649					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1946C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	4.426	0.078860	0.08533	.	.	ENSG00000172572	ENST00000359062	T	0.61859	0.07	5.64	3.77	0.43336	.	7739.210000	0.00166	N	0.000000	T	0.51227	0.1662	N	0.22421	0.69	0.09310	N	1	P	0.34837	0.472	B	0.33295	0.161	T	0.53114	-0.8484	10	0.52906	T	0.07	.	14.0504	0.64732	0.454:0.546:0.0:0.0	.	649	Q14432	PDE3A_HUMAN	H	649	ENSP00000351957:P649H	ENSP00000351957:P649H	P	+	2	0	PDE3A	20679202	0.242000	0.23868	0.016000	0.15963	0.040000	0.13550	0.863000	0.27913	0.699000	0.31761	-0.175000	0.13238	CCT		0.443	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			29	279	1	0	1.75199e-13	1	1.84162e-13	29	279				
SLC12A2	6558	broad.mit.edu	37	5	127487026	127487026	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:127487026C>G	ENST00000262461.2	+	14	2390	c.2201C>G	c.(2200-2202)gCt>gGt	p.A734G	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	734					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AACTGGTGGGCTGCATTGCTA	0.378																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2200-2202)gCt>gGt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						210.0	200.0	203.0					5																	127487026		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127487026C>G		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2201C>G	5.37:g.127487026C>G	ENSP00000262461:p.Ala734Gly					SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G	p.A734G	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	14	2390	+		all_cancers(142;0.0972)|Prostate(80;0.151)	734					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2201C>G	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168369	0.78339	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98968	-5.28;-5.28	4.7	4.7	0.59300	Amino acid permease domain (1);	0.124211	0.53938	D	0.000048	D	0.99017	0.9664	M	0.90252	3.1	0.80722	D	1	D;D	0.56746	0.971;0.977	P;P	0.54544	0.641;0.755	D	0.99734	1.1013	10	0.87932	D	0	.	18.2088	0.89864	0.0:1.0:0.0:0.0	.	734;734	P55011-3;P55011	.;S12A2_HUMAN	G	734	ENSP00000262461:A734G;ENSP00000340878:A734G	ENSP00000262461:A734G	A	+	2	0	SLC12A2	127514925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.626000	0.88956	0.655000	0.94253	GCT		0.378	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		54	319	0	0	0	1	0	54	319				
CENPF	1063	broad.mit.edu	37	1	214815002	214815002	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:214815002G>A	ENST00000366955.3	+	12	3489	c.3321G>A	c.(3319-3321)caG>caA	p.Q1107Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACAGTGCAGCAAGCTCTGA	0.373																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(3319-3321)caG>caA		centromere protein F, 350/400kDa							80.0	82.0	81.0					1																	214815002		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815002G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3321G>A	1.37:g.214815002G>A							p.Q1107Q	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	3489	+			1107					Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.3321G>A	CCDS31023.1																																																																																				0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		5	367	0	0	0	1	0	5	367				
TGFBI	7045	broad.mit.edu	37	5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179.0	180.0	179.0					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	896	0	0	0	1	0	6	896				
TMEM117	84216	broad.mit.edu	37	12	44782272	44782272	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:44782272G>T	ENST00000266534.3	+	8	1489	c.1362G>T	c.(1360-1362)caG>caT	p.Q454H	TMEM117_ENST00000536799.1_Missense_Mutation_p.Q350H|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	454						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AAAACACCCAGGCTTCAGTAG	0.443																																						ENST00000266534.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(1360-1362)caG>caT		transmembrane protein 117							141.0	138.0	139.0					12																	44782272		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44782272G>T	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1362G>T	12.37:g.44782272G>T	ENSP00000266534:p.Gln454His					TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.Q350H|TMEM117_ENST00000546978.1_3'UTR	p.Q454H	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1489	+	Lung SC(27;0.192)		454						Missense_Mutation	SNP	ENST00000266534.3	37	c.1362G>T	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087281	0.36855	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T	0.46819	0.86	5.73	2.5	0.30297	.	0.052666	0.85682	D	0.000000	T	0.38081	0.1027	L	0.41236	1.265	0.39169	D	0.962561	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.002	T	0.33007	-0.9885	10	0.48119	T	0.1	-10.3341	12.0236	0.53358	0.2193:0.0:0.7807:0.0	.	350;454	F5H3Q2;Q9H0C3	.;TM117_HUMAN	H	454;350;202	ENSP00000266534:Q454H	ENSP00000266534:Q454H	Q	+	3	2	TMEM117	43068539	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	1.298000	0.33412	0.774000	0.33427	-0.142000	0.14014	CAG		0.443	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		14	384	1	0	8.60227e-14	1	9.08464e-14	14	384				
RANBP2	5903	broad.mit.edu	37	2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156.0	173.0	167.0					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1089	0	0	0	1	0	7	1089				
PID1	55022	broad.mit.edu	37	2	229890591	229890591	+	Silent	SNP	G	G	A	rs139231184	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:229890591G>A	ENST00000354069.6	-	3	540	c.510C>T	c.(508-510)acC>acT	p.T170T	PID1_ENST00000392055.3_Silent_p.T137T|PID1_ENST00000392054.3_Silent_p.T168T|PID1_ENST00000409462.1_Silent_p.T88T|PID1_ENST00000482518.2_Intron			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	170	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGTGGTCGGCGGTGCAGTAGG	0.582																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(502-504)acC>acT		phosphotyrosine interaction domain containing 1		G	,	1,4405	2.1+/-5.4	0,1,2202	143.0	130.0	134.0		411,504	-11.7	0.1	2	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PID1	NM_001100818.1,NM_017933.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	137/218,168/249	229890591	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55022					cytoplasm		g.chr2:229890591G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.510C>T	2.37:g.229890591G>A						PID1_ENST00000409462.1_Silent_p.T88T|PID1_ENST00000354069.6_Silent_p.T170T|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.T137T	p.T168T	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	843	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	170			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37	c.504C>T																																																																																					0.582	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		5	429	0	0	0	1	0	5	429				
OR4C13	283092	broad.mit.edu	37	11	49974001	49974001	+	Silent	SNP	G	G	A	rs148894043	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49974001G>A	ENST00000555099.1	+	1	59	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTGACAGAGTTTATTCTAT	0.299																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(25-27)gaG>gaA		olfactory receptor, family 4, subfamily C, member 13							92.0	93.0	93.0					11																	49974001		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974001G>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.27G>A	11.37:g.49974001G>A							p.E9E	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	59	+			9					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.27G>A	CCDS31495.1																																																																																				0.299	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		92	356	0	0	0	1	0	92	356				
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|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)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			6	1084	0	0	0	1	0	6	1084				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			8	397	0	0	0	1	0	8	397				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		24	162	0	0	0	1	0	24	162				
NECAB1	64168	broad.mit.edu	37	8	91929840	91929840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:91929840C>T	ENST00000417640.2	+	6	815	c.478C>T	c.(478-480)Caa>Taa	p.Q160*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	160						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TACTGAGGAGCAAACCCGTCA	0.383																																						ENST00000417640.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12						c.(478-480)Caa>Taa		N-terminal EF-hand calcium binding protein 1							114.0	112.0	113.0					8																	91929840		1860	4099	5959	SO:0001587	stop_gained	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91929840C>T	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.478C>T	8.37:g.91929840C>T	ENSP00000387380:p.Gln160*						p.Q160*	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		6	815	+			160					Q6NUS7|Q96AZ7|Q9HBW8	Nonsense_Mutation	SNP	ENST00000417640.2	37	c.478C>T	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	C	39	7.736388	0.98462	.	.	ENSG00000123119	ENST00000417640	.	.	.	5.16	5.16	0.70880	.	0.110120	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.9093	18.6331	0.91368	0.0:1.0:0.0:0.0	.	.	.	.	X	160	.	ENSP00000387380:Q160X	Q	+	1	0	NECAB1	91999016	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.953000	0.75995	2.386000	0.81285	0.467000	0.42956	CAA		0.383	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		15	209	0	0	0	1	0	15	209				
PLXNB1	5364	broad.mit.edu	37	3	48456620	48456620	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48456620C>T	ENST00000358536.4	-	20	4200	c.3931G>A	c.(3931-3933)Gca>Aca	p.A1311T	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1128T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1128T|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A1311T|PLXNB1_ENST00000465117.1_Splice_Site	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1311	IPT/TIG 3.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGAACATGCCGTCTCCGGG	0.647																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(3931-3933)Gca>Aca		plexin B1							62.0	62.0	62.0					3																	48456620		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48456620C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3931G>A	3.37:g.48456620C>T	ENSP00000351338:p.Ala1311Thr					PLXNB1_ENST00000296440.6_Missense_Mutation_p.A1311T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1128T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1128T|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_Splice_Site	p.A1311T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	20	4200	-			1311			IPT/TIG 3.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3931G>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478634	0.26511	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.14	3.31	0.37934	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);	1.568640	0.03917	N	0.282842	T	0.60366	0.2263	N	0.08118	0	0.19575	N	0.999964	B;B	0.23185	0.081;0.005	B;B	0.26693	0.072;0.022	T	0.42085	-0.9472	10	0.12103	T	0.63	.	14.3733	0.66857	0.0:0.693:0.307:0.0	.	1311;1128	O43157;O43157-2	PLXB1_HUMAN;.	T	1311;1128;1311;1128	ENSP00000296440:A1311T;ENSP00000351242:A1128T;ENSP00000351338:A1311T;ENSP00000414199:A1128T	ENSP00000296440:A1311T	A	-	1	0	PLXNB1	48431624	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	1.403000	0.34612	0.515000	0.28320	0.655000	0.94253	GCA		0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		5	191	0	0	0	1	0	5	191				
UBA7	7318	broad.mit.edu	37	3	49842859	49842859	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49842859A>T	ENST00000333486.3	-	24	3079	c.2921T>A	c.(2920-2922)cTg>cAg	p.L974Q	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	974					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGCTGAACCAGTTCTGTCAC	0.617																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2920-2922)cTg>cAg		ubiquitin-like modifier activating enzyme 7							93.0	83.0	86.0					3																	49842859		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49842859A>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2921T>A	3.37:g.49842859A>T	ENSP00000333266:p.Leu974Gln						p.L974Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	24	3079	-			974					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2921T>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255794	0.59321	.	.	ENSG00000182179	ENST00000333486	T	0.57752	0.38	5.36	5.36	0.76844	Ubiquitin-activating enzyme e1, C-terminal (1);	0.261023	0.25634	N	0.029323	T	0.72358	0.3450	M	0.80183	2.485	0.45150	D	0.998165	D	0.89917	1.0	D	0.83275	0.996	T	0.76377	-0.2981	10	0.87932	D	0	-1.9099	11.7536	0.51862	1.0:0.0:0.0:0.0	.	974	P41226	UBA7_HUMAN	Q	974	ENSP00000333266:L974Q	ENSP00000333266:L974Q	L	-	2	0	UBA7	49817863	0.105000	0.21958	0.392000	0.26245	0.872000	0.50106	2.681000	0.46926	2.026000	0.59711	0.460000	0.39030	CTG		0.617	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		94	118	0	0	0	1	0	94	118				
MCF2L2	23101	broad.mit.edu	37	3	183017842	183017842	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:183017842T>A	ENST00000328913.3	-	11	1553	c.1256A>T	c.(1255-1257)aAa>aTa	p.K419I	MCF2L2_ENST00000414362.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.K419I|MCF2L2_ENST00000447025.2_Missense_Mutation_p.K419I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	419							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AATGTCCCATTTTTTCTTGTT	0.458																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1255-1257)aAa>aTa		MCF.2 cell line derived transforming sequence-like 2							139.0	130.0	133.0					3																	183017842		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183017842T>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1256A>T	3.37:g.183017842T>A	ENSP00000328118:p.Lys419Ile					MCF2L2_ENST00000447025.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.K419I	p.K419I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		11	1553	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		419					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1256A>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726819	0.48833	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.59	0.741	0.18336	.	0.117224	0.56097	D	0.000033	T	0.47116	0.1428	M	0.82630	2.6	0.32472	N	0.542635	P;D	0.63880	0.904;0.993	P;P	0.57371	0.465;0.819	T	0.58561	-0.7615	10	0.56958	D	0.05	.	8.7236	0.34456	0.0:0.2264:0.0:0.7736	.	419;419	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	I	419;419;419;19;419	ENSP00000328118:K419I;ENSP00000420070:K419I;ENSP00000388190:K419I;ENSP00000414131:K419I	ENSP00000328118:K419I	K	-	2	0	MCF2L2	184500536	0.996000	0.38824	0.541000	0.28102	0.201000	0.24016	2.616000	0.46376	-0.021000	0.14009	-0.290000	0.09829	AAA		0.458	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		28	322	0	0	0	1	0	28	322				
FCN3	8547	broad.mit.edu	37	1	27697110	27697110	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:27697110C>T	ENST00000270879.4	-	7	640	c.635G>A	c.(634-636)gGc>gAc	p.G212D	FCN3_ENST00000354982.2_Missense_Mutation_p.G201D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	212	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGAACTTGCCCAGTGCCAG	0.582																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(634-636)gGc>gAc		ficolin (collagen/fibrinogen domain containing) 3							107.0	105.0	106.0					1																	27697110		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27697110C>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.635G>A	1.37:g.27697110C>T	ENSP00000270879:p.Gly212Asp					FCN3_ENST00000354982.2_Missense_Mutation_p.G201D	p.G212D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	7	640	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	212			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.635G>A	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159905	0.78226	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76186	-1.0;-1.0	4.84	2.93	0.34026	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.324971	0.25288	N	0.031759	T	0.81432	0.4821	L	0.56769	1.78	0.25196	N	0.990097	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.70916	-0.4742	10	0.59425	D	0.04	.	10.1394	0.42725	0.0:0.8212:0.0:0.1788	.	201;212	Q6UXM4;O75636	.;FCN3_HUMAN	D	212;201;90	ENSP00000270879:G212D;ENSP00000347077:G201D	ENSP00000270879:G212D	G	-	2	0	FCN3	27569697	0.046000	0.20272	0.975000	0.42487	0.386000	0.30323	0.596000	0.24044	1.198000	0.43158	0.558000	0.71614	GGC		0.582	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			6	436	0	0	0	1	0	6	436				
OSBPL5	114879	broad.mit.edu	37	11	3129166	3129166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:3129166C>T	ENST00000263650.7	-	8	860	c.701G>A	c.(700-702)tGg>tAg	p.W234*	OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	234	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCGTCCAGCCAGCAGCGACC	0.697																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(700-702)tGg>tAg		oxysterol binding protein-like 5							28.0	34.0	32.0					11																	3129166		2201	4294	6495	SO:0001587	stop_gained	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3129166C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.701G>A	11.37:g.3129166C>T	ENSP00000263650:p.Trp234*					OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*	p.W234*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	8	860	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	234			PH.		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Nonsense_Mutation	SNP	ENST00000263650.7	37	c.701G>A	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989428	0.74589	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	.	.	.	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0922	16.7016	0.85350	0.0:1.0:0.0:0.0	.	.	.	.	X	234;166;145;166	.	ENSP00000263650:W234X	W	-	2	0	OSBPL5	3085742	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.116000	0.77119	2.156000	0.67533	0.455000	0.32223	TGG		0.697	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			43	58	0	0	0	1	0	43	58				
DRC7	84229	broad.mit.edu	37	16	57764951	57764951	+	Missense_Mutation	SNP	C	C	T	rs568917398		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57764951C>T	ENST00000360716.3	+	18	2721	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	CCDC135_ENST00000336825.8_Missense_Mutation_p.R769C|CCDC135_ENST00000394337.4_Missense_Mutation_p.R834C			Q8IY82	CC135_HUMAN		834					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCCATGTTCCGCATCCGCAT	0.597													c|||	1	0.000199681	0.0008	0.0	5008	,	,		21079	0.0		0.0	False		,,,				2504	0.0					ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2500-2502)Cgc>Tgc		coiled-coil domain containing 135							102.0	90.0	94.0					16																	57764951		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57764951C>T																												ENST00000360716.3:c.2500C>T	16.37:g.57764951C>T	ENSP00000353942:p.Arg834Cys					CCDC135_ENST00000394337.4_Missense_Mutation_p.R834C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R769C	p.R834C			Q8IY82	CC135_HUMAN			18	2721	+			834					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2500C>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	12.08	1.831476	0.32329	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.55413	0.52;0.52;0.52	5.04	4.09	0.47781	.	0.274751	0.35646	N	0.003074	T	0.73613	0.3609	M	0.85197	2.74	0.58432	D	0.999999	B;D	0.89917	0.056;1.0	B;D	0.91635	0.026;0.999	T	0.77892	-0.2418	10	0.66056	D	0.02	-22.0214	12.618	0.56588	0.0:0.9179:0.0:0.0821	.	769;834	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	834;769;834	ENSP00000377869:R834C;ENSP00000338938:R769C;ENSP00000353942:R834C	ENSP00000338938:R769C	R	+	1	0	CCDC135	56322452	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	2.268000	0.43338	1.275000	0.44379	-0.156000	0.13503	CGC		0.597	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			107	221	0	0	0	1	0	107	221				
LOC101927209	101927209	broad.mit.edu	37	1	142713239	142713239	+	lincRNA	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:142713239T>A	ENST00000610091.1	-	0	2419																											TCTTCTGCATTTTCATACATC	0.383																																						ENST00000369381.2																			0																																																			0							g.chr1:142713239T>A																													1.37:g.142713239T>A														0	1366	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.383	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			54	183	0	0	0	1	0	54	183				
PTPRN2	5799	broad.mit.edu	37	7	157370783	157370783	+	Missense_Mutation	SNP	G	G	A	rs567734269	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:157370783G>A	ENST00000389418.4	-	18	2555	c.2546C>T	c.(2545-2547)gCg>gTg	p.A849V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A832V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A811V|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A820V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A872V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	849	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGTTCTCCGCGAGGGGTGT	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		16184	0.002		0.0	False		,,,				2504	0.0					ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(2458-2460)gCg>gTg		protein tyrosine phosphatase, receptor type, N polypeptide 2							85.0	70.0	75.0					7																	157370783		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157370783G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2546C>T	7.37:g.157370783G>A	ENSP00000374069:p.Ala849Val					PTPRN2_ENST00000389418.4_Missense_Mutation_p.A849V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A811V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A832V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A872V	p.A820V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	17	2562	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	849			Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.2459C>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	2.966	-0.213558	0.06140	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.33	5.33	0.75918	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.607774	0.16155	N	0.227082	T	0.48114	0.1482	N	0.00134	-2.025	0.09310	N	1	B;B;B;B;B	0.17667	0.02;0.009;0.003;0.023;0.009	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.002;0.003	T	0.26744	-1.0094	10	0.02654	T	1	.	14.2668	0.66123	0.0732:0.0:0.9268:0.0	.	872;811;820;832;849	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	V	811;820;832;849;872	ENSP00000387114:A811V;ENSP00000374064:A820V;ENSP00000374067:A832V;ENSP00000374069:A849V;ENSP00000385464:A872V	ENSP00000374064:A820V	A	-	2	0	PTPRN2	157063544	0.929000	0.31497	0.190000	0.23270	0.069000	0.16628	5.203000	0.65174	2.488000	0.83962	0.655000	0.94253	GCG		0.622	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			10	139	0	0	0	1	0	10	139				
HLA-G	3135	broad.mit.edu	37	6	29797288	29797288	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:29797288T>C	ENST00000360323.6	+	4	737	c.713T>C	c.(712-714)aTa>aCa	p.I238T	HLA-G_ENST00000376828.2_Missense_Mutation_p.I243T|HLA-G_ENST00000376818.3_Missense_Mutation_p.I146T|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000428701.1_Missense_Mutation_p.I238T			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	238	Alpha-3.|Ig-like C1-type.				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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GCGGAGATCATACTGACCTGG	0.627																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(712-714)aTa>aCa		major histocompatibility complex, class I, G							82.0	81.0	81.0					6																	29797288		2203	4299	6502	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797288T>C		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.713T>C	6.37:g.29797288T>C	ENSP00000353472:p.Ile238Thr					HLA-G_ENST00000376828.2_Missense_Mutation_p.I243T|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.I238T|HLA-G_ENST00000376818.3_Missense_Mutation_p.I146T	p.I238T	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			5	891	+			238			Alpha-3.|Ig-like C1-type.			Missense_Mutation	SNP	ENST00000360323.6	37	c.713T>C	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.351567	0.00016	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	1.72	0.804	0.18697	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.193030	0.06727	N	0.775921	T	0.00178	0.0005	N	0.00133	-2.03	0.09310	N	0.999995	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.46005	-0.9222	10	0.02654	T	1	.	2.5661	0.04784	0.2786:0.5364:0.0:0.1851	.	243;146;238	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	T	243;238;238;146	ENSP00000366024:I243T;ENSP00000412927:I238T;ENSP00000353472:I238T;ENSP00000366014:I146T	ENSP00000353472:I238T	I	+	2	0	HLA-G	29905267	0.000000	0.05858	0.201000	0.23476	0.157000	0.22087	-0.420000	0.07062	0.070000	0.16634	-0.817000	0.03123	ATA		0.627	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		5	706	0	0	0	1	0	5	706				
CDKN2A	1029	broad.mit.edu	37	9	21974702	21974702	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974702T>A	ENST00000304494.5	-	1	395	c.125A>T	c.(124-126)aAt>aTt	p.N42I	CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	42					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCGTAACTATTCGGTGCGTT	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1341	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(124-126)aAt>aTt		cyclin-dependent kinase inhibitor 2A							48.0	58.0	55.0					9																	21974702		2203	4300	6503	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974702T>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.125A>T	9.37:g.21974702T>A	ENSP00000307101:p.Asn42Ile	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I	p.N42I	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	395	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	42					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.125A>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153068	0.78001	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.69435	-0.4;-0.4	4.89	3.73	0.42828	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.84415	0.5467	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.858	D	0.86363	0.1718	9	0.87932	D	0	.	10.4356	0.44433	0.1463:0.0:0.0:0.8537	.	42;42	P42771;G3XAG3	CD2A1_HUMAN;.	I	42	ENSP00000307101:N42I;ENSP00000394932:N42I	ENSP00000307101:N42I	N	-	2	0	CDKN2A	21964702	1.000000	0.71417	0.034000	0.17996	0.034000	0.12701	5.683000	0.68189	0.964000	0.38108	-0.327000	0.08410	AAT		0.687	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		272	168	0	0	0	1	0	272	168				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	71	0	0	0	1	0	4	71				
ZNF638	27332	broad.mit.edu	37	2	71629120	71629120	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:71629120A>G	ENST00000409544.1	+	16	3362	c.2732A>G	c.(2731-2733)aAt>aGt	p.N911S	ZNF638_ENST00000264447.4_Missense_Mutation_p.N911S|ZNF638_ENST00000355812.3_Missense_Mutation_p.N911S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	911	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTTGTCTCTAATTTGCCTAAT	0.269																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(2731-2733)aAt>aGt		zinc finger protein 638							84.0	88.0	87.0					2																	71629120		2202	4296	6498	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71629120A>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2732A>G	2.37:g.71629120A>G	ENSP00000386433:p.Asn911Ser					ZNF638_ENST00000355812.3_Missense_Mutation_p.N911S|ZNF638_ENST00000264447.4_Missense_Mutation_p.N911S	p.N911S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			16	3362	+			911			RRM 2.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.2732A>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981481	0.53827	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.56275	0.47;1.49;1.49	5.69	5.69	0.88448	.	0.272209	0.41500	D	0.000865	T	0.50769	0.1635	M	0.65975	2.015	0.80722	D	1	B;B;P;B	0.35272	0.361;0.287;0.493;0.361	B;B;B;B	0.33454	0.079;0.085;0.164;0.079	T	0.51132	-0.8744	10	0.33940	T	0.23	-4.9239	13.8977	0.63783	1.0:0.0:0.0:0.0	.	911;911;911;911	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	S	490;911;911;911	ENSP00000348066:N911S;ENSP00000264447:N911S;ENSP00000386433:N911S	ENSP00000264447:N911S	N	+	2	0	ZNF638	71482628	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.314000	0.65804	2.167000	0.68274	0.477000	0.44152	AAT		0.269	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		13	223	0	0	0	1	0	13	223				
LILRA2	11027	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T	rs532565720	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0.0	0.0014	5008	,	,		16291	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49.0	51.0	50.0					19																	55086932		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			7	502	0	0	0	1	0	7	502				
NTNG2	84628	broad.mit.edu	37	9	135102349	135102349	+	Missense_Mutation	SNP	G	G	A	rs557724992		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:135102349G>A	ENST00000393229.3	+	4	1747	c.971G>A	c.(970-972)cGc>cAc	p.R324H	NTNG2_ENST00000372179.3_Missense_Mutation_p.R324H|NTNG2_ENST00000393228.4_Missense_Mutation_p.R324H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R324H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	324	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AAGAATTTCCGCACCCGGTCC	0.677																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(970-972)cGc>cAc		netrin G2							40.0	37.0	38.0					9																	135102349		2203	4299	6502	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135102349G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.971G>A	9.37:g.135102349G>A	ENSP00000376921:p.Arg324His					NTNG2_ENST00000372179.3_Missense_Mutation_p.R324H|NTNG2_ENST00000393228.4_Missense_Mutation_p.R324H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R324H	p.R324H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	4	1747	+			324			Laminin EGF-like 1.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.971G>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910498	0.52439	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.75	4.75	0.60458	EGF-like, laminin (3);	0.249770	0.32852	N	0.005578	T	0.25975	0.0633	N	0.01473	-0.845	0.42692	D	0.99358	P	0.50066	0.931	B	0.36608	0.229	T	0.34329	-0.9833	10	0.10636	T	0.68	.	16.7144	0.85394	0.0:0.0:1.0:0.0	.	324	Q96CW9	NTNG2_HUMAN	H	324	ENSP00000376921:R324H;ENSP00000376920:R324H;ENSP00000353888:R324H;ENSP00000361252:R324H	ENSP00000353888:R324H	R	+	2	0	NTNG2	134092170	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.158000	0.77470	2.184000	0.69523	0.313000	0.20887	CGC		0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		15	90	0	0	0	1	0	15	90				
FARP2	9855	broad.mit.edu	37	2	242373703	242373703	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242373703T>A	ENST00000264042.3	+	10	1168	c.998T>A	c.(997-999)gTc>gAc	p.V333D	FARP2_ENST00000373287.4_Missense_Mutation_p.V333D|FARP2_ENST00000545004.1_Missense_Mutation_p.V333D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	333					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCAAAAGCCGTCTTCTTCAGC	0.468																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(997-999)gTc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							95.0	99.0	98.0					2																	242373703		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373703T>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.998T>A	2.37:g.242373703T>A	ENSP00000264042:p.Val333Asp					FARP2_ENST00000545004.1_Missense_Mutation_p.V333D|FARP2_ENST00000373287.4_Missense_Mutation_p.V333D	p.V333D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1168	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	333					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.998T>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347971	0.82132	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.2	5.2	0.72013	FERM adjacent (FA) (1);	0.066906	0.64402	D	0.000010	D	0.91828	0.7414	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72625	0.978;0.968;0.978	D	0.91344	0.5099	10	0.35671	T	0.21	.	15.0632	0.71970	0.0:0.0:0.0:1.0	.	333;333;333	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	333;333;333;20	ENSP00000264042:V333D;ENSP00000443876:V333D;ENSP00000362384:V333D;ENSP00000412772:V20D	ENSP00000264042:V333D	V	+	2	0	FARP2	242022376	1.000000	0.71417	0.158000	0.22627	0.695000	0.40330	6.019000	0.70818	1.956000	0.56807	0.455000	0.32223	GTC		0.468	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			52	302	0	0	0	1	0	52	302				
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:43318571G>A	ENST00000374518.5	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.M1046I(1)	endometrium(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3136-3138)atG>atA		BMS1 ribosome biogenesis factor							74.0	83.0	80.0					10																	43318571		2202	4297	6499	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318571G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3138G>A	10.37:g.43318571G>A	ENSP00000363642:p.Met1046Ile						p.M1046I	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3201	+			1046					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3138G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485181	0.63962	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.86953	2.85	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.48636	-0.9018	10	0.72032	D	0.01	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1046	Q14692	BMS1_HUMAN	I	1046	ENSP00000363642:M1046I	ENSP00000363642:M1046I	M	+	3	0	BMS1	42638577	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	ATG		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		6	374	0	0	0	1	0	6	374				
TEX19	400629	broad.mit.edu	37	17	80320465	80320465	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:80320465T>C	ENST00000333437.4	+	2	749	c.439T>C	c.(439-441)Tgg>Cgg	p.W147R		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	147					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GGGTCTTCCCTGGAGATTTGA	0.597																																						ENST00000333437.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(439-441)Tgg>Cgg		testis expressed 19							51.0	51.0	51.0					17																	80320465		2203	4297	6500	SO:0001583	missense	400629					nucleus		g.chr17:80320465T>C	BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.439T>C	17.37:g.80320465T>C	ENSP00000331500:p.Trp147Arg						p.W147R	NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN			2	749	+			147						Missense_Mutation	SNP	ENST00000333437.4	37	c.439T>C	CCDS11809.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901393	0.33535	.	.	ENSG00000182459	ENST00000333437	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	T	0.58524	0.2128	L	0.34521	1.04	0.36261	D	0.85455	D	0.89917	1.0	D	0.87578	0.998	T	0.66376	-0.5939	8	0.87932	D	0	-12.8215	8.7547	0.34639	0.0:0.0:0.0:1.0	.	147	Q8NA77	TEX19_HUMAN	R	147	.	ENSP00000331500:W147R	W	+	1	0	TEX19	77913754	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	1.553000	0.36255	1.836000	0.53414	0.460000	0.39030	TGG		0.597	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	NM_207459		79	336	0	0	0	1	0	79	336				
CELSR1	9620	broad.mit.edu	37	22	46931761	46931761	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:46931761G>C	ENST00000262738.3	-	1	1306	c.1307C>G	c.(1306-1308)cCg>cGg	p.P436R	CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	436	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGCGGGCCCGGATTGCGCCC	0.667																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1306-1308)cCg>cGg		cadherin, EGF LAG seven-pass G-type receptor 1							45.0	28.0	34.0					22																	46931761		2202	4294	6496	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931761G>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1307C>G	22.37:g.46931761G>C	ENSP00000262738:p.Pro436Arg					CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R	p.P436R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1306	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	436			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1307C>G	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585708	0.46110	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.51574	0.7;0.7	4.65	3.62	0.41486	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	U	0.000004	T	0.68072	0.2961	M	0.78637	2.42	0.39149	D	0.96218	D	0.89917	1.0	D	0.97110	1.0	T	0.74137	-0.3762	10	0.66056	D	0.02	.	13.7659	0.62995	0.0:0.0:0.8449:0.1551	.	436	Q9NYQ6	CELR1_HUMAN	R	436	ENSP00000262738:P436R;ENSP00000379293:P436R	ENSP00000262738:P436R	P	-	2	0	CELSR1	45310425	1.000000	0.71417	0.997000	0.53966	0.534000	0.34807	9.205000	0.95048	0.943000	0.37553	0.462000	0.41574	CCG		0.667	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		20	95	0	0	0	1	0	20	95				
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		12	319						12	319	---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26885311	26885311	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:26885311delC	ENST00000374168.2	+	14	1252	c.1098delC	c.(1096-1098)atcfs	p.I366fs	RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.I350fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.I375fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.I355fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCCCAGGCATCCCCCCCAGCG	0.672																																						ENST00000374168.2																			0				lung(1)	1						c.(1096-1098)atfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1							64.0	63.0	64.0					1																	26885311		2203	4300	6503	SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885311delC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1098delC	1.37:g.26885311delC	ENSP00000363283:p.Ile366fs					RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.I350fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.I375fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.I355fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.I274fs	p.I366fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	14	1252	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	366			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Del	DEL	ENST00000374168.2	37	c.1098delC	CCDS284.1																																																																																				0.672	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		8	517						8	517	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		9	890						9	890	---	---	---	---
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1186-1188)del		serine/arginine-rich splicing factor 4				32,4234		1,30,2102						4.8	1.0			113	49,8205		3,43,4081	no	coding	SRSF4	NM_005626.4		4,73,6183	A1A1,A1R,RR		0.5937,0.7501,0.647				81,12439				SO:0001651	inframe_deletion	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475219_29475221delCTT	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1186_1188delAAG	1.37:g.29475228_29475230delCTT	ENSP00000362900:p.Lys396del					SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	p.K396del	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1420_1422	-			396			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	In_Frame_Del	DEL	ENST00000373795.4	37	c.1186_1188delAAG	CCDS333.1																																																																																				0.601	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		23	708						23	708	---	---	---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(43-45)tfs		transmembrane and coiled-coil domains 2																																				SO:0001589	frameshift_variant	127391					integral to membrane		g.chr1:40713708_40713709delTC	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.43_44delTC	1.37:g.40713718_40713719delTC	ENSP00000361852:p.Ser15fs					TMCO2_ENST00000468258.1_Intron	p.S15fs	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	136_137	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	15						Frame_Shift_Del	DEL	ENST00000372766.3	37	c.43_44delTC	CCDS30684.1																																																																																				0.406	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		12	944						12	944	---	---	---	---
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs149892509		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1.0		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		8	309						8	309	---	---	---	---
B4GALT2	8704	broad.mit.edu	37	1	44455987	44455988	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:44455987_44455988insC	ENST00000356836.6	+	7	1776_1777	c.986_987insC	c.(985-990)aacacgfs	p.T330fs	B4GALT2_ENST00000372324.1_Frame_Shift_Ins_p.T330fs|CCDC24_ENST00000372318.3_5'Flank|B4GALT2_ENST00000434555.2_Frame_Shift_Ins_p.T264fs|B4GALT2_ENST00000309519.7_Frame_Shift_Ins_p.T359fs	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	330					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AAGATTCAAAACACGAAGCTGA	0.465																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(985-987)aacfs		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001589	frameshift_variant	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44455987_44455988insC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.987dupC	1.37:g.44455988_44455988dupC	ENSP00000349293:p.Thr330fs					B4GALT2_ENST00000309519.7_Frame_Shift_Ins_p.N358fs|B4GALT2_ENST00000372324.1_Frame_Shift_Ins_p.N329fs|B4GALT2_ENST00000434555.2_Frame_Shift_Ins_p.N263fs	p.N329fs	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			7	1776_1777	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	329					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Frame_Shift_Ins	INS	ENST00000356836.6	37	c.986_987insC	CCDS506.1																																																																																				0.465	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	1845						7	1845	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		11	466						11	466	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		18	961						18	961	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		8	326						8	326	---	---	---	---
APOBEC4	403314	broad.mit.edu	37	1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-	rs141411396		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(1087-1092)aaa>aa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)																																				SO:0001651	inframe_deletion	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616826_183616828delTTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1089_1091delGAA	1.37:g.183616835_183616837delTTC	ENSP00000310622:p.Lys364del					RGL1_ENST00000367531.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000536277.1_Intron	p.KK363del	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	1360_1362	-			363					Q8N7F6	In_Frame_Del	DEL	ENST00000308641.4	37	c.1089_1091delGAA	CCDS1358.1																																																																																				0.419	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		9	724						9	724	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		8	547						8	547	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		7	887						7	887	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		7	342						7	342	---	---	---	---
APOB	338	broad.mit.edu	37	2	21228602	21228602	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:21228602delT	ENST00000233242.1	-	26	11265	c.11138delA	c.(11137-11139)aacfs	p.N3713fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3713					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCATTGGGGTTTTTGGTGTA	0.398																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(11137-11139)acfs		apolipoprotein B	Atorvastatin(DB01076)						98.0	95.0	96.0					2																	21228602		2203	4300	6503	SO:0001589	frameshift_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228602delT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11138delA	2.37:g.21228602delT	ENSP00000233242:p.Asn3713fs						p.N3713fs	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11265	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3713					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	c.11138delA	CCDS1703.1																																																																																				0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			8	691						8	691	---	---	---	---
BRE	9577	broad.mit.edu	37	2	28521301	28521301	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:28521301delA	ENST00000342045.2	+	12	1172	c.1031delA	c.(1030-1032)caafs	p.Q344fs	BRE_ENST00000344773.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCCCAGGCCCAAAAAAATTAT	0.448																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(1030-1032)cafs		brain and reproductive organ-expressed (TNFRSF1A modulator)							132.0	134.0	133.0					2																	28521301		2203	4300	6503	SO:0001589	frameshift_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28521301delA	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.1031delA	2.37:g.28521301delA	ENSP00000339371:p.Gln344fs					BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs	p.Q344fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			11	1169	+	Acute lymphoblastic leukemia(172;0.155)		344			UEV-like 2.			Frame_Shift_Del	DEL	ENST00000342045.2	37	c.1031delA	CCDS1763.1																																																																																				0.448	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			8	788						8	788	---	---	---	---
CFAP36	112942	broad.mit.edu	37	2	55772051	55772052	+	Frame_Shift_Del	DEL	AG	AG	-	rs373330967		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:55772051_55772052delAG	ENST00000349456.4	+	10	1084_1085	c.936_937delAG	c.(934-939)acagagfs	p.E313fs	CCDC104_ENST00000407816.3_Frame_Shift_Del_p.E284fs|CCDC104_ENST00000339012.3_Frame_Shift_Del_p.E338fs			Q96G28	CFA36_HUMAN		313										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGAAATGACAGAGAAACCAGA	0.332																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(934-939)acagfs		coiled-coil domain containing 104																																				SO:0001589	frameshift_variant	112942							g.chr2:55772051_55772052delAG																												ENST00000349456.4:c.936_937delAG	2.37:g.55772053_55772054delAG	ENSP00000295117:p.Glu313fs					CCDC104_ENST00000407816.3_Frame_Shift_Del_p.TE283fs|CCDC104_ENST00000339012.3_Frame_Shift_Del_p.TE337fs	p.TE312fs			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		10	1084_1085	+			312					Q53SF0|Q53ST9|Q6UY34	Frame_Shift_Del	DEL	ENST00000349456.4	37	c.936_937delAG	CCDS1854.2																																																																																				0.332	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			13	167						13	167	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	755					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2263-2268)cat>ca		ubiquitin specific peptidase 34																																				SO:0001651	inframe_deletion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575023_61575025delTGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2265_2267delCCA	2.37:g.61575032_61575034delTGG	ENSP00000381577:p.His760del						p.HH759del	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2341_2343	-			759					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Del	DEL	ENST00000398571.2	37	c.2265_2267delCCA	CCDS42686.1																																																																																				0.389	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			7	337						7	337	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-	rs377079619		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttccgc>ttc	p.R1093del	DYSF_ENST00000413539.2_In_Frame_Del_p.R1124del|DYSF_ENST00000409744.1_In_Frame_Del_p.R1080del|DYSF_ENST00000409582.3_In_Frame_Del_p.R1110del|DYSF_ENST00000410020.3_In_Frame_Del_p.R1111del|DYSF_ENST00000429174.2_In_Frame_Del_p.R1093del|DYSF_ENST00000409366.1_In_Frame_Del_p.R1094del|DYSF_ENST00000394120.2_In_Frame_Del_p.R1094del|DYSF_ENST00000409651.1_In_Frame_Del_p.R1125del|DYSF_ENST00000409762.1_In_Frame_Del_p.R1110del|DYSF_ENST00000410041.1_In_Frame_Del_p.R1111del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1093	Arg-rich.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3265-3270)ttc>tt		dysferlin																																				SO:0001651	inframe_deletion	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71801420_71801422delCCG	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3267_3269delCCG	2.37:g.71801429_71801431delCCG	ENSP00000258104:p.Arg1093del					DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del	p.FR1089del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			30	3544_3546	+			1089			Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	In_Frame_Del	DEL	ENST00000258104.3	37	c.3267_3269delCCG	CCDS1918.1																																																																																				0.655	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		8	840						8	840	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		7	485						7	485	---	---	---	---
SLC9A2	6549	broad.mit.edu	37	2	103299834	103299835	+	In_Frame_Ins	INS	-	-	ATCTTC			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:103299834_103299835insATCTTC	ENST00000233969.2	+	4	1261_1262	c.1119_1120insATCTTC	c.(1120-1122)atc>ATCTTCatc	p.374_374I>IFI		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	374					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCGAAACCTTGATCTTCATCTT	0.485																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1117-1122)tttctt>ttATCTTCtctt		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2																																				SO:0001652	inframe_insertion	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103299834_103299835insATCTTC		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1126_1131dupATCTTC	2.37:g.103299835_103299840dupATCTTC	Exception_encountered						p.373_373F>LSS	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			4	1261_1262	+			373					B2RMS2	In_Frame_Ins	INS	ENST00000233969.2	37	c.1119_1120insATCTTC	CCDS2062.1																																																																																				0.485	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			14	415						14	415	---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113088959	113088961	+	In_Frame_Del	DEL	GAT	GAT	-	rs557004552		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:113088959_113088961delGAT	ENST00000409871.1	+	12	2865_2867	c.2464_2466delGAT	c.(2464-2466)gatdel	p.D825del	ZC3H6_ENST00000343936.4_In_Frame_Del_p.D825del|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	825							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAAAAGAGGCGATGATGATGATG	0.429																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(2464-2466)del		zinc finger CCCH-type containing 6																																				SO:0001651	inframe_deletion	376940						nucleic acid binding|zinc ion binding	g.chr2:113088959_113088961delGAT	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2464_2466delGAT	2.37:g.113088968_113088970delGAT	ENSP00000386764:p.Asp825del					ZC3H6_ENST00000343936.4_In_Frame_Del_p.D825del	p.D825del	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	2865_2867	+			825					A9JR71|Q6ZW96	In_Frame_Del	DEL	ENST00000409871.1	37	c.2464_2466delGAT	CCDS46393.1																																																																																				0.429	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		7	712						7	712	---	---	---	---
BZW1	9689	broad.mit.edu	37	2	201683504	201683505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:201683504_201683505insA	ENST00000409600.1	+	9	1301_1302	c.846_847insA	c.(847-849)aaafs	p.K283fs	BZW1_ENST00000452790.2_Frame_Shift_Ins_p.K315fs|BZW1_ENST00000409226.1_Frame_Shift_Ins_p.K287fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	283	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACAA	0.371																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(844-849)ataaaafs		basic leucine zipper and W2 domains 1			,,,	2,3514		0,2,1756					,,,	5.6	1.0			76	2,7816		0,2,3907	no	frameshift,frameshift,frameshift,frameshift	BZW1	NM_014670.3,NM_001207069.1,NM_001207068.1,NM_001207067.1	,,,	0,4,5663	A1A1,A1R,RR		0.0256,0.0569,0.0353	,,,	,,,		4,11330				SO:0001589	frameshift_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201683504_201683505insA	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.854dupA	2.37:g.201683512_201683512dupA	ENSP00000386474:p.Lys283fs					BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs|BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs	p.IK282fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			9	1301_1302	+			282			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Frame_Shift_Ins	INS	ENST00000409600.1	37	c.846_847insA	CCDS56156.1																																																																																				0.371	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		7	283						7	283	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660886	227660886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:227660886delG	ENST00000305123.5	-	1	3589	c.2569delC	c.(2569-2571)cggfs	p.R857fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	857					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCGTGGGCCGGGCCAGGCGG	0.662																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2569-2571)ggfs		insulin receptor substrate 1							32.0	42.0	39.0					2																	227660886		2203	4300	6503	SO:0001589	frameshift_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660886delG		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2569delC	2.37:g.227660886delG	ENSP00000304895:p.Arg857fs						p.R857fs	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3589	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	857						Frame_Shift_Del	DEL	ENST00000305123.5	37	c.2569delC	CCDS2463.1																																																																																				0.662	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		48	353						48	353	---	---	---	---
HES6	55502	broad.mit.edu	37	2	239147781	239147785	+	Frame_Shift_Del	DEL	ACGGT	ACGGT	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:239147781_239147785delACGGT	ENST00000272937.5	-	4	576_580	c.358_362delACCGT	c.(358-363)accgtcfs	p.TV120fs	AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409182.1_Frame_Shift_Del_p.TV91fs|HES6_ENST00000409002.3_Frame_Shift_Del_p.TV118fs|HES6_ENST00000409160.3_Frame_Shift_Del_p.YR198fs|HES6_ENST00000409574.1_Frame_Shift_Del_p.PS107fs					hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CTCGGCAGCGACGGTAGCGTCGATG	0.668																																						ENST00000409160.3																			0				lung(1)|skin(1)	2						c.(592-597)tfs		hes family bHLH transcription factor 6																																				SO:0001589	frameshift_variant	55502				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr2:239147781_239147785delACGGT	AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"""Basic helix-loop-helix proteins"""	18254	protein-coding gene	gene with protein product		610331	"""hairy and enhancer of split 6 (Drosophila)"""			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000272937.5:c.358_362delACCGT	2.37:g.239147781_239147785delACGGT	ENSP00000272937:p.Thr120fs					HES6_ENST00000272937.5_Frame_Shift_Del_p.TV120fs|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Frame_Shift_Del_p.TV118fs|HES6_ENST00000409182.1_Frame_Shift_Del_p.TV91fs|HES6_ENST00000409574.1_Frame_Shift_Del_p.LPS109fs	p.YR198fs	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)	3	725_729	-		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	0						Frame_Shift_Del	DEL	ENST00000272937.5	37	c.593_597delACCGT	CCDS2527.1																																																																																				0.668	HES6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257170.2	NM_018645		9	233						9	233	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241700765	241700776	+	In_Frame_Del	DEL	CCAGCTCACACT	CCAGCTCACACT	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:241700765_241700776delCCAGCTCACACT	ENST00000320389.7	-	23	2266_2277	c.2108_2119delAGTGTGAGCTGG	c.(2107-2121)gagtgtgagctggcg>gcg	p.ECEL703del	KIF1A_ENST00000498729.2_In_Frame_Del_p.ECEL712del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	703					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCCCAGAGCGCCAGCTCACACTCCCGCTCTGT	0.632																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2134-2148)gcg>g		kinesin family member 1A																																				SO:0001651	inframe_deletion	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241700765_241700776delCCAGCTCACACT	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2108_2119delAGTGTGAGCTGG	2.37:g.241700765_241700776delCCAGCTCACACT	ENSP00000322791:p.Glu703_Leu706del					KIF1A_ENST00000320389.7_In_Frame_Del_p.ECELA703del	p.ECELA712del	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	24	2381_2392	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	703					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Del	DEL	ENST00000320389.7	37	c.2135_2146delAGTGTGAGCTGG	CCDS46561.1																																																																																				0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		30	169						30	169	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:33602361delT	ENST00000468888.2	-	28	2939	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000399362.4_Frame_Shift_Del_p.M964fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	745	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2890-2892)tgfs		cytoplasmic linker associated protein 2							188.0	194.0	192.0					3																	33602361		1841	4103	5944	SO:0001589	frameshift_variant	23122							g.chr3:33602361delT	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2893delA	3.37:g.33602361delT	ENSP00000419974:p.Met965fs					CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs	p.M964fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			28	3243	-			966					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Frame_Shift_Del	DEL	ENST00000468888.2	37	c.2890delA																																																																																					0.343	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		9	762						9	762	---	---	---	---
CCR1	1230	broad.mit.edu	37	3	46245502	46245502	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:46245502delA	ENST00000296140.3	-	2	428	c.303delT	c.(301-303)tttfs	p.F101fs	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	101					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGGCATCACCAAAAACCCAGT	0.483																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(301-303)ttfs		chemokine (C-C motif) receptor 1							154.0	150.0	151.0					3																	46245502		2203	4300	6503	SO:0001589	frameshift_variant	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46245502delA		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.303delT	3.37:g.46245502delA	ENSP00000296140:p.Phe101fs					CCR3_ENST00000357422.2_Intron	p.F101fs	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	428	-			101					Q86VA9	Frame_Shift_Del	DEL	ENST00000296140.3	37	c.303delT	CCDS2737.1																																																																																				0.483	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		7	509						7	509	---	---	---	---
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-	rs370067968		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49321969_49321971delTCT	ENST00000265560.4	-	18	2364_2366	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_ENST00000351842.4_In_Frame_Del_p.K726del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2176-2181)acc>a		ubiquitin specific peptidase 4 (proto-oncogene)			,	11,4255		0,11,2122					,	3.8	0.1			132	0,8254		0,0,4127	no	coding,coding	USP4	NM_199443.2,NM_003363.3	,	0,11,6249	A1A1,A1R,RR		0.0,0.2579,0.0879	,	,		11,12509				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49321969_49321971delTCT	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2318_2320delAGA	3.37:g.49321978_49321980delTCT	ENSP00000265560:p.Lys773del					USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	p.KT726del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	17	2185_2187	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	773					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.2177_2179delAGA	CCDS2793.1																																																																																				0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		7	704						7	704	---	---	---	---
MAPKAPK3	7867	broad.mit.edu	37	3	50655079	50655080	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:50655079_50655080insG	ENST00000446044.1	+	4	679_680	c.83_84insG	c.(82-87)ccggggfs	p.PG28fs	MAPKAPK3_ENST00000357955.2_Frame_Shift_Ins_p.PG28fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	28			P -> S (in a glioblastoma multiforme sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.R31fs*47(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGCGGTGCTCCGGGGGGGCGGC	0.698																																						ENST00000446044.1																			1	Insertion - Frameshift(1)	p.R31fs*47(1)	large_intestine(1)	central_nervous_system(1)|ovary(1)	2						c.(82-84)cggfs		mitogen-activated protein kinase-activated protein kinase 3				14,4250		0,14,2118						0.6	0.0			46	10,8244		0,10,4117	no	frameshift	MAPKAPK3	NM_004635.4		0,24,6235	A1A1,A1R,RR		0.1212,0.3283,0.1917				24,12494				SO:0001589	frameshift_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50655079_50655080insG	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.90dupG	3.37:g.50655086_50655086dupG	ENSP00000396467:p.Pro28fs					MAPKAPK3_ENST00000357955.2_Frame_Shift_Ins_p.R28fs	p.R28fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	4	679_680	+			28		P -> S (in a glioblastoma multiforme sample; somatic mutation).			B5BU67	Frame_Shift_Ins	INS	ENST00000446044.1	37	c.83_84insG	CCDS2832.1																																																																																				0.698	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		7	512						7	512	---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100039735	100039736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:100039735_100039736insA	ENST00000394144.4	+	18	1945_1946	c.1938_1939insA	c.(1939-1941)aaafs	p.K647fs	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.K510fs|TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.K632fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	647					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AAATTACATCCAAAAAAAAACA	0.356																																						ENST00000394144.4																			4	Unknown(2)|Insertion - Frameshift(2)	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)	large_intestine(2)|skin(2)	breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(1936-1941)tcaaaafs		TBC1 domain family, member 23																																				SO:0001589	frameshift_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100039735_100039736insA	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1947dupA	3.37:g.100039744_100039744dupA	ENSP00000377700:p.Lys647fs					TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.SK631fs|TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.SK509fs	p.SK646fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			18	1945_1946	+			646					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Frame_Shift_Ins	INS	ENST00000394144.4	37	c.1938_1939insA	CCDS56265.1																																																																																				0.356	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		7	320						7	320	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133670082	133670083	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:133670082_133670083insA	ENST00000310926.4	-	6	1103_1104	c.830_831insT	c.(829-831)ttcfs	p.F277fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	277					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CTCGAGGGAAGAAAAAAAAGGG	0.49																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(829-831)tttfs		solute carrier organic anion transporter family, member 2A1				1,4265		0,1,2132						4.8	1.0			90	0,8254		0,0,4127	no	frameshift	SLCO2A1	NM_005630.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670082_133670083insA		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.831dupT	3.37:g.133670090_133670090dupA	ENSP00000311291:p.Phe277fs					SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	p.F277fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			6	1103_1104	-			277					Q86V98|Q8IUN2	Frame_Shift_Ins	INS	ENST00000310926.4	37	c.830_831insT	CCDS3084.1																																																																																				0.490	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		10	496						10	496	---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180666227	180666228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:180666227_180666228insA	ENST00000357559.4	+	5	747_748	c.363_364insA	c.(364-366)aaafs	p.K122fs	FXR1_ENST00000445140.2_Frame_Shift_Ins_p.K122fs|FXR1_ENST00000305586.7_Frame_Shift_Ins_p.K37fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.K73fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.K109fs|FXR1_ENST00000468861.1_Frame_Shift_Ins_p.K37fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	122					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ATAAAACTGTCAAAAAAAATAC	0.332																																						ENST00000357559.4																			1	Deletion - Frameshift(1)	p.N124fs*14(1)	large_intestine(1)	breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(361-366)gtaaaafs		fragile X mental retardation, autosomal homolog 1																																				SO:0001589	frameshift_variant	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180666227_180666228insA	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.371dupA	3.37:g.180666235_180666235dupA	ENSP00000350170:p.Lys122fs					FXR1_ENST00000468861.1_Frame_Shift_Ins_p.VK36fs|FXR1_ENST00000445140.2_Frame_Shift_Ins_p.VK121fs|FXR1_ENST00000305586.7_Frame_Shift_Ins_p.VK36fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.VK108fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.VK72fs	p.VK121fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		5	747_748	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		121					A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Ins	INS	ENST00000357559.4	37	c.363_364insA	CCDS3238.1																																																																																				0.332	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			7	297						7	297	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194147850	194147850	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:194147850delA	ENST00000439040.1	-	29	3870	c.3079delT	c.(3079-3081)tggfs	p.W1027fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.W1027fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1027						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGTTTGACCCAAAAAAAACCC	0.383																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(3079-3081)ggfs		ATPase type 13A3							64.0	63.0	63.0					3																	194147850		1809	4080	5889	SO:0001589	frameshift_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194147850delA	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3079delT	3.37:g.194147850delA	ENSP00000416508:p.Trp1027fs					ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.W1027fs	p.W1027fs			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	29	3870	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1027					Q8NC11|Q96KS1	Frame_Shift_Del	DEL	ENST00000439040.1	37	c.3079delT	CCDS43187.1																																																																																				0.383	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		10	340						10	340	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40144449	40144449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:40144449delA	ENST00000261435.6	+	15	5358	c.4942delA	c.(4942-4944)aaafs	p.K1649fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1649					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCGGATAGGGAAAAAAAATGT	0.398																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4942-4944)aafs		NEDD4 binding protein 2							88.0	88.0	88.0					4																	40144449		2203	4300	6503	SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40144449delA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4942delA	4.37:g.40144449delA	ENSP00000261435:p.Lys1649fs						p.K1649fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			15	5358	+			1649					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	37	c.4942delA	CCDS3457.1																																																																																				0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		7	363						7	363	---	---	---	---
LOC256880	256880	broad.mit.edu	37	4	100912527	100912528	+	RNA	INS	-	-	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:100912527_100912528insA	ENST00000507494.1	+	0	191				RP11-15B17.1_ENST00000501976.2_RNA																							CCTTCTTTGCCAAAAATGCCTG	0.475																																						ENST00000507494.1																			0																																																			0							g.chr4:100912527_100912528insA																													4.37:g.100912532_100912532dupA						RP11-15B17.1_ENST00000501976.2_RNA								0	191	+									RNA	INS	ENST00000507494.1	37																																																																																						0.475	RP11-15B17.1-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000363430.2			29	179						29	179	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		7	938						7	938	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		9	1127						9	1127	---	---	---	---
NOL7	51406	broad.mit.edu	37	6	13620992	13620992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:13620992delA	ENST00000451315.2	+	8	739	c.707delA	c.(706-708)caafs	p.Q236fs	AL441883.1_ENST00000600057.1_Frame_Shift_Del_p.W44fs|RANBP9_ENST00000469916.1_5'Flank|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	236						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q239fs*7(1)|p.K238fs*16(1)		breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			CTAGGAATCCAAAAAAAACAA	0.269																																						ENST00000451315.2																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.Q239fs*7(1)|p.K238fs*16(1)	large_intestine(2)	breast(1)|large_intestine(3)|lung(1)	5						c.(706-708)cafs		nucleolar protein 7, 27kDa							30.0	32.0	31.0					6																	13620992		2203	4289	6492	SO:0001589	frameshift_variant	51406					mitochondrion|nucleolus		g.chr6:13620992delA	AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.707delA	6.37:g.13620992delA	ENSP00000405674:p.Gln236fs					NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Frame_Shift_Del_p.W44fs	p.Q236fs	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	Epithelial(50;0.176)		8	739	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	236					Q5T297|Q9Y3U7	Frame_Shift_Del	DEL	ENST00000451315.2	37	c.707delA	CCDS4528.1																																																																																				0.269	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	NM_016167		7	167						7	167	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		14	550						14	550	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(523-525)cfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	581_582	-			175					Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		8	326						8	326	---	---	---	---
WTAP	9589	broad.mit.edu	37	6	160163179	160163180	+	Splice_Site	INS	-	-	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:160163179_160163180insT	ENST00000358372.4	+	4	1902		c.e4+1		WTAP_ENST00000337387.4_Splice_Site|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GATCTTAACTGTAAGTTTGAGT	0.282																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.e4+1		Wilms tumor 1 associated protein																																				SO:0001630	splice_region_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160163179_160163180insT	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.145+1->T	6.37:g.160163180_160163180dupT						SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Splice_Site		NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	4	1902	+		Breast(66;0.000776)|Ovarian(120;0.0303)						Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Splice_Site	INS	ENST00000358372.4	37		CCDS5266.1																																																																																				0.282	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857	Intron	44	242						44	242	---	---	---	---
PPP1R17	10842	broad.mit.edu	37	7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGTCAGACCAAAAAAAACCA	0.438																																						ENST00000342032.3																			0											c.(178-180)cafs		protein phosphatase 1, regulatory subunit 17			,	4,0,4260		0,0,4,0,0,2128	142.0	138.0	140.0		,	3.6	0.8	7		141	1,3,8250		0,0,1,0,3,4123	no	codingComplex,intron	C7orf16	NM_006658.4,NM_001145123.2	,	0,0,5,0,3,6251	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.0938,0.0639	,	,	31735179	5,3,12510	2203	4300	6503	SO:0001589	frameshift_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735179delA	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.179delA	7.37:g.31735179delA	ENSP00000340125:p.Gln60fs					PPP1R17_ENST00000409146.3_Intron	p.Q60fs	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			3	807	+			60					B4DE58|Q9UDQ0	Frame_Shift_Del	DEL	ENST00000342032.3	37	c.179delA	CCDS5436.1																																																																																				0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		10	869						10	869	---	---	---	---
ZNF733P	643955	broad.mit.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C	rs373405087|rs368825314	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1				zinc finger protein 733, pseudogene																		GCATAGGGTTTTCTCTAGTATG	0.421													|||unknown(LONG_INSERTION)	63	0.0125799	0.0371	0.0	5008	,	,		19012	0.0109		0.003	False		,,,				2504	0.0					ENST00000331425.6																			0																																																			0							g.chr7:62752415_62752416insC			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752415_62752416insC								NR_003952.1						0	1019_1020	-									RNA	INS	ENST00000331425.6	37																																																																																						0.421	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			7	225						7	225	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-	rs71555278		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	399					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			11	402						11	402	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		13	252						13	252	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1021-1023)ccfs		sulfatase 1							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs	p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		8	853						8	853	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA							p.L419_splice	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		419			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	4	9						4	9	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-	rs370606246		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:35906348_35906350delCTG	ENST00000354323.2	+	1	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	28						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.67																																						ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(64-66)del		histidine rich carboxyl terminus 1				367,3839		38,291,1774						-8.3	0.0			23	737,7385		88,561,3412	no	coding	HRCT1	NM_001039792.1		126,852,5186	A1A1,A1R,RR		9.0741,8.7256,8.9552				1104,11224				SO:0001651	inframe_deletion	646962					integral to membrane		g.chr9:35906348_35906350delCTG		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.64_66delCTG	9.37:g.35906357_35906359delCTG	ENSP00000346283:p.Leu28del						p.L28del	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	160_162	+			28					B7ZBJ1	In_Frame_Del	DEL	ENST00000354323.2	37	c.64_66delCTG	CCDS35012.1																																																																																				0.670	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		8	76						8	76	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40715923	40715924	+	lincRNA	DEL	AA	AA	-	rs374953827|rs62565543	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:40715923_40715924delAA	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							GAAGACGTGGAAAGAGCTCAGA	0.569																																						ENST00000604146.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10																																														0							g.chr9:40715923_40715924delAA																													9.37:g.40715923_40715924delAA								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	262_263	+									RNA	DEL	ENST00000432614.1	37																																																																																						0.569	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			9	75						9	75	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		18	230						18	230	---	---	---	---
CCDC7	79741	broad.mit.edu	37	10	33018277	33018277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:33018277delA	ENST00000375030.2	+	13	1360	c.742delA	c.(742-744)aaafs	p.K250fs	C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs|C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs			Q9H943	CJ068_HUMAN		242										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTAGAAATCAAAAAAAAGGA	0.323																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(742-744)aafs		chromosome 10 open reading frame 68							49.0	52.0	51.0					10																	33018277		2200	4293	6493	SO:0001589	frameshift_variant	79741							g.chr10:33018277delA																												ENST00000375030.2:c.742delA	10.37:g.33018277delA	ENSP00000364170:p.Lys250fs					C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs|C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs	p.K250fs			Q9H943	CJ068_HUMAN			13	1360	+			242					B0QZ71|Q08AN7|Q8N7T7	Frame_Shift_Del	DEL	ENST00000375030.2	37	c.742delA																																																																																					0.323	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			7	426						7	426	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		12	506						12	506	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64812754	64812755	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:64812754_64812755insT	ENST00000332707.5	+	6	898_899	c.369_370insT	c.(370-372)tttfs	p.F124fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	124	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGTGGCCCAAGTTTTTTTTTGA	0.441																																						ENST00000332707.5																			1	Deletion - Frameshift(1)	p.F126fs*6(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(367-372)aattttfs		exportin, tRNA																																				SO:0001589	frameshift_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812754_64812755insT	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.378dupT	12.37:g.64812763_64812763dupT	ENSP00000327821:p.Phe124fs						p.NF123fs	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	898_899	+			123			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Ins	INS	ENST00000332707.5	37	c.369_370insT	CCDS31852.1																																																																																				0.441	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		9	366						9	366	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:88566417delT	ENST00000266712.6	+	8	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	365					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1093-1095)ctfs		transmembrane and tetratricopeptide repeat containing 3				18,4246		6,6,2120	135.0	127.0	130.0			5.5	1.0	12		131	19,8235		6,7,4114	no	frameshift	TMTC3	NM_181783.3		12,13,6234	A1A1,A1R,RR		0.2302,0.4221,0.2956			88566417	37,12481	2203	4299	6502	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88566417delT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1094delT	12.37:g.88566417delT	ENSP00000266712:p.Leu365fs						p.L365fs	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1314	+			365					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.1094delT	CCDS9032.1																																																																																				0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		7	548						7	548	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		11	1480						11	1480	---	---	---	---
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-	rs188092231|rs369463367		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000341039.2_In_Frame_Del_p.E103del|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		7	517						7	517	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812693	122812694	+	Frame_Shift_Ins	INS	-	-	T	rs77289752	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:122812693_122812694insT	ENST00000540338.1	-	16	3090_3091	c.3049_3050insA	c.(3049-3051)acafs	p.T1017fs	CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.T971fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.T1006fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.T895fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.T1006fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.T592fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1017					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTTGTGGCTTGTTTCCATTTTC	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3016-3018)aagfs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812693_122812694insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3050dupA	12.37:g.122812696_122812696dupT	ENSP00000439093:p.Thr1017fs					CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.K592fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.K1017fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.K971fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.K895fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.K1006fs	p.K1006fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3170_3171	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1017					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3016_3017insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		9	652						9	652	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		7	661						7	661	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			9	23						9	23	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	GPALPP1_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(250-252)del						311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	0							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame	p.D88del			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	285_287	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		9	997						9	997	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138110	20138110	+	RNA	DEL	T	T	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:20138110delT	ENST00000548261.1	+	0	391																											GGGAACTTCCTCCACTCCTTT	0.488																																						ENST00000548261.1																			0																																																			0							g.chr14:20138110delT																													14.37:g.20138110delT														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.488	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			24	736						24	736	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-	rs201949704|rs370943979		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_ENST00000328736.3_In_Frame_Del_p.E715del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	715	Poly-Glu.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2143-2148)gac>ga		protein tyrosine phosphatase, non-receptor type 21																																				SO:0001651	inframe_deletion	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945628_88945630delTCC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2145_2147delGGA	14.37:g.88945637_88945639delTCC	ENSP00000452414:p.Glu715del					PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2429_2431	-			717			Poly-Glu.			In_Frame_Del	DEL	ENST00000556564.1	37	c.2145_2147delGGA	CCDS9884.1																																																																																				0.704	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			7	166						7	166	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23333801	23333802	+	RNA	INS	-	-	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:23333801_23333802insA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		ACTTACAGTTCAAAAAAAAAAA	0.441																																						ENST00000560464.1																			0																																																			0							g.chr15:23333801_23333802insA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23333812_23333812dupA														0	908	-									RNA	INS	ENST00000560464.1	37																																																																																						0.441	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			7	40						7	40	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		18	356						18	356	---	---	---	---
SNUPN	10073	broad.mit.edu	37	15	75899578	75899579	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:75899578_75899579insC	ENST00000564644.1	-	7	1156_1157	c.578_579insG	c.(577-579)ggafs	p.G193fs	SNUPN_ENST00000564675.1_Frame_Shift_Ins_p.G193fs|SNUPN_ENST00000567134.1_Frame_Shift_Ins_p.G193fs|SNUPN_ENST00000308588.5_Frame_Shift_Ins_p.G193fs|SNUPN_ENST00000371091.5_Frame_Shift_Ins_p.G235fs			O95149	SPN1_HUMAN	snurportin 1	193					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						AAAAAGGGTGTCCCCGCCAGCA	0.505																																						ENST00000371091.5																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						c.(703-705)gcafs		snurportin 1																																				SO:0001589	frameshift_variant	10073				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	g.chr15:75899578_75899579insC	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.579dupG	15.37:g.75899582_75899582dupC	ENSP00000454852:p.Gly193fs					SNUPN_ENST00000564675.1_Frame_Shift_Ins_p.A193fs|SNUPN_ENST00000308588.5_Frame_Shift_Ins_p.A193fs|SNUPN_ENST00000567134.1_Frame_Shift_Ins_p.A193fs|SNUPN_ENST00000564644.1_Frame_Shift_Ins_p.A193fs	p.A235fs			O95149	SPN1_HUMAN			7	1156_1157	-			193			Necessary for binding to the m3G-cap structure.		A6NE34|A8K0B0|D3DW76	Frame_Shift_Ins	INS	ENST00000564644.1	37	c.704_705insG	CCDS10281.1																																																																																				0.505	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		7	471						7	471	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000262376.6_In_Frame_Del_p.K238del|UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		8	1088						8	1088	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-	rs140499762		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_ENST00000568579.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.S557del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.S436del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.S436del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.S557del	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(1759-1764)gcc>gc		solute carrier family 5 (sodium/inositol cotransporter), member 11				0,59,4205		0,0,0,0,59,2073						2.3	0.0		dbSNP_134	91	12,151,8089		0,0,12,0,151,3963	no	codingComplex	SLC5A11	NM_052944.2		0,0,12,0,210,6036	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9753,1.3837,1.7737				12,210,12294				SO:0001651	inframe_deletion	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921737_24921739delCAG	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1761_1763delCAG	16.37:g.24921746_24921748delCAG	ENSP00000289932:p.Ser592del					SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del	p.AS587del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	15	2383_2385	+			587						In_Frame_Del	DEL	ENST00000347898.3	37	c.1761_1763delCAG	CCDS10625.1																																																																																				0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		8	304						8	304	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-	rs143282103		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1.0		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	573						8	573	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	GAG	-	rs141826437	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:67763279_67763281delGAG	ENST00000317506.3	-	10	1369_1371	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_ENST00000602677.1_In_Frame_Del_p.418_419SS>S|RANBP10_ENST00000411657.2_In_Frame_Del_p.301_302SS>S|RANBP10_ENST00000448631.2_In_Frame_Del_p.362_363SS>S|RANBP10_ENST00000536251.1_In_Frame_Del_p.189_190SS>S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	418	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.S418S(2)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567																																						ENST00000317506.3																			2	Substitution - coding silent(2)	p.S418S(2)	endometrium(2)	endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1252-1257)tcg>tc		RAN binding protein 10																																				SO:0001651	inframe_deletion	57610							g.chr16:67763279_67763281delGAG	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1254_1256delCTC	16.37:g.67763288_67763290delGAG	ENSP00000316589:p.Ser422del					RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del	p.SS420del	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1369_1371	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	420			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	In_Frame_Del	DEL	ENST00000317506.3	37	c.1254_1256delCTC	CCDS32469.1																																																																																				0.567	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		7	176						7	176	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821594	72821596	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:72821594_72821596delGCC	ENST00000268489.5	-	10	11251_11253	c.10579_10581delGGC	c.(10579-10581)ggcdel	p.G3527del	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3527	Poly-Gly.		G -> GGG.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGTGGTACGAgccgccgccgccg	0.69																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10579-10581)del		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821594_72821596delGCC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10579_10581delGGC	16.37:g.72821603_72821605delGCC	ENSP00000268489:p.Gly3527del					AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del	p.G3527del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11251_11253	-		Ovarian(137;0.13)	3527		G -> GGG.	Poly-Gly.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.10579_10581delGGC	CCDS10908.1																																																																																				0.690	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	489						8	489	---	---	---	---
AC005863.1	0	broad.mit.edu	37	17	14673542	14673543	+	lincRNA	INS	-	-	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:14673542_14673543insT	ENST00000379640.1	-	0	354_355																											GCTGGTCCCAGTTTTTTTTTCT	0.45																																						ENST00000379640.1																			0																	4,4260		0,4,2128						0.2	0.0			65	15,8239		0,15,4112	no	intergenic				0,19,6240	A1A1,A1R,RR		0.1817,0.0938,0.1518				19,12499						0							g.chr17:14673542_14673543insT																													17.37:g.14673551_14673551dupT														0	354_355	-									RNA	INS	ENST00000379640.1	37																																																																																						0.450	AC005863.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000130001.1			9	126						9	126	---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		9	224						9	224	---	---	---	---
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-	rs376633756		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP9-1_ENST00000318329.5_Splice_Site_p.46_47CG>W|KRTAP9-1_ENST00000377723.3_Intron	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606																																						ENST00000398470.1																			0				breast(1)|lung(3)	4						c.(286-291)tgc>t		keratin associated protein 9-1																																				SO:0001651	inframe_deletion	0					keratin filament		g.chr17:39346425_39346427delGTG	AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.287_289delGTG	17.37:g.39346425_39346427delGTG	ENSP00000381488:p.Gly97del					KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice	p.CG96del	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN			1	287_289	+			96			30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].			In_Frame_Del	DEL	ENST00000398470.1	37	c.287_289delGTG	CCDS56029.1																																																																																				0.606	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257781.1			8	97						8	97	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61899155	61899157	+	IGR	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:61899155_61899157delCTC	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_In_Frame_Del_p.E508del	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCAGTGGATTCTCCTCCTCCTCC	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1522-1524)del		FtsJ homolog 3 (E. coli)				1,4263		0,1,2131						5.2	1.0			197	2,8252		0,2,4125	no	coding	FTSJ3	NM_017647.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899155_61899157delCTC	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899164_61899166delCTC							p.E508del	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2167_2169	-			508					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	In_Frame_Del	DEL	ENST00000578681.1	37	c.1522_1524delGAG	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		7	932						7	932	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	233						7	233	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21426313	21426313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:21426313delT	ENST00000313654.9	+	31	4013	c.3772delT	c.(3772-3774)tttfs	p.F1258fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.F1258fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1258	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCTGGTGGCCTTTTACCACAA	0.622																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(3772-3774)ttfs		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89.0	92.0	91.0					18																	21426313		1930	4130	6060	SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21426313delT	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3772delT	18.37:g.21426313delT	ENSP00000324532:p.Phe1258fs					LAMA3_ENST00000399516.3_Frame_Shift_Del_p.F1258fs	p.F1258fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			31	4013	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1258			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	37	c.3772delT	CCDS42419.1																																																																																				0.622	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	1266						7	1266	---	---	---	---
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-	rs371146424		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)accfs	p.T226fs	CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	226					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCGGGACCCGGCGGCAC	0.632																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(676-678)acfs		calponin 2			,	229,3873		14,201,1836	77.0	90.0	86.0		,	4.3	1.0	19		87	311,7625		16,279,3673	no	frameshift,frameshift	CNN2	NM_201277.1,NM_004368.2	,	30,480,5509	A1A1,A1R,RR		3.9189,5.5826,4.4858	,	,	1037646	540,11498	2119	4148	6267	SO:0001589	frameshift_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037646delC	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.677delC	19.37:g.1037646delC	ENSP00000263097:p.Thr226fs					CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs	p.T226fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1040	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	226					A5D8U8|A6NFI4|D6W5X9|Q92578	Frame_Shift_Del	DEL	ENST00000263097.4	37	c.677delC	CCDS12053.1																																																																																				0.632	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		8	589						8	589	---	---	---	---
SBSN	374897	broad.mit.edu	37	19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gagfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E46fs*27(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGCCCACCTCTCTCTCTGC	0.579																																						ENST00000452271.2																			1	Deletion - Frameshift(1)	p.E46fs*27(1)	large_intestine(1)	large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(136-138)gfs		suprabasin																																				SO:0001589	frameshift_variant	374897					extracellular region		g.chr19:36019046_36019047delCT	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.137_138delAG	19.37:g.36019054_36019055delCT	ENSP00000430242:p.Glu46fs					SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	165_166	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		46					A8K5J0|E9PBV3	Frame_Shift_Del	DEL	ENST00000452271.2	37	c.137_138delAG	CCDS54253.1																																																																																				0.579	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		8	937						8	937	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	1246						7	1246	---	---	---	---
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:39898948_39898950delCAC	ENST00000248673.3	+	2	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del	ZFP36_ENST00000597629.1_In_Frame_Del_p.P207del|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	201					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(607-612)tca>t		ZFP36 ring finger protein				17,4235		5,7,2114						3.3	0.1			74	14,8216		2,10,4103	no	coding	ZFP36	NM_003407.2		7,17,6217	A1A1,A1R,RR		0.1701,0.3998,0.2484				31,12451				SO:0001651	inframe_deletion	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898948_39898950delCAC	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.590_592delCAC	19.37:g.39898957_39898959delCAC	ENSP00000248673:p.Pro201del					ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del	p.SP203del			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	682_684	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		197					B2RA54	In_Frame_Del	DEL	ENST00000248673.3	37	c.608_610delCAC																																																																																					0.685	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				7	1190						7	1190	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50158041	50158042	+	Frame_Shift_Ins	INS	-	-	C	rs149487378		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:50158041_50158042insC	ENST00000360565.3	+	9	3656_3657	c.3532_3533insC	c.(3532-3534)accfs	p.T1178fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1178					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGCGGTTCGACCCCCCCCACC	0.693																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3532-3534)cccfs		SR-related CTD-associated factor 1				36,4184		1,34,2075						4.2	0.8			26	32,8138		0,32,4053	no	frameshift	SCAF1	NM_021228.2		1,66,6128	A1A1,A1R,RR		0.3917,0.8531,0.5488				68,12322				SO:0001589	frameshift_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50158041_50158042insC	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3540dupC	19.37:g.50158049_50158049dupC	ENSP00000353769:p.Thr1178fs						p.P1178fs	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	9	3656_3657	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1178					Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Ins	INS	ENST00000360565.3	37	c.3532_3533insC	CCDS33074.1																																																																																				0.693	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		8	342						8	342	---	---	---	---
MIR517C	574492	broad.mit.edu	37	19	54245814	54245815	+	RNA	INS	-	-	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54245814_54245815insA	ENST00000385103.1	+	0	95				MIR520H_ENST00000385126.1_RNA|RNU6-982P_ENST00000516216.1_RNA	NR_030214.1				microRNA 517c																		TGTTGTCTGAGAAAAAACAAAG	0.416																																						ENST00000385126.1																			0																																																			0							g.chr19:54245814_54245815insA			19q13.42	2011-09-12		2008-12-18	ENSG00000207838	ENSG00000207838		"""ncRNAs / Micro RNAs"""	32124	non-coding RNA	RNA, micro				MIRN517C			Standard	NR_030214		Approved	hsa-mir-517c	uc021var.1				19.37:g.54245820_54245820dupA								NR_030215.1						0	49_50	+									RNA	INS	ENST00000385103.1	37																																																																																						0.416	MIR517C-201	KNOWN	basic	miRNA	miRNA		NR_030214		66	725						66	725	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			9	547						9	547	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			12	393						12	393	---	---	---	---
PPP1R12C	54776	broad.mit.edu	37	19	55607456	55607456	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55607456delG	ENST00000263433.3	-	8	1131	c.1116delC	c.(1114-1116)cccfs	p.P372fs	PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.P372fs|PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.P298fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGTCCTGGATGGGGGGCCCCC	0.642																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(1114-1116)ccfs		protein phosphatase 1, regulatory subunit 12C							48.0	61.0	56.0					19																	55607456		2203	4297	6500	SO:0001589	frameshift_variant	54776					cytoplasm		g.chr19:55607456delG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1116delC	19.37:g.55607456delG	ENSP00000263433:p.Pro372fs					PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.P298fs|PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.P372fs	p.P372fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	8	1131	-			372						Frame_Shift_Del	DEL	ENST00000263433.3	37	c.1116delC	CCDS12916.1																																																																																				0.642	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		7	777						7	777	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGGCTTGGGCTTTTTTTTAAC	0.488																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1903-1905)agfs		zinc finger, MYND-type containing 8							203.0	199.0	200.0					20																	45875072		2203	4300	6503	SO:0001589	frameshift_variant	23613						protein binding|zinc ion binding	g.chr20:45875072delT	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1904delA	20.37:g.45875072delT	ENSP00000312237:p.Lys635fs					ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs	p.K635fs			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2157	-			635					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Frame_Shift_Del	DEL	ENST00000311275.7	37	c.1904delA																																																																																					0.488	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		7	1074						7	1074	---	---	---	---
TFAP2C	7022	broad.mit.edu	37	20	55212855	55212856	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:55212855_55212856delCA	ENST00000201031.2	+	7	1382_1383	c.1139_1140delCA	c.(1138-1140)ccafs	p.P380fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	380	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AGGCTCGCCCCAGTCTTGGAGA	0.55																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1138-1140)cfs		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)																																				SO:0001589	frameshift_variant	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55212855_55212856delCA		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1139_1140delCA	20.37:g.55212855_55212856delCA	ENSP00000201031:p.Pro380fs					TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	p.P380fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		7	1382_1383	+			380			H-S-H (helix-span-helix), dimerization.		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Frame_Shift_Del	DEL	ENST00000201031.2	37	c.1139_1140delCA	CCDS13454.1																																																																																				0.550	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		129	378						129	378	---	---	---	---
ANKRD20A18P	391269	broad.mit.edu	37	21	15441192	15441193	+	RNA	INS	-	-	T	rs148464975		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:15441192_15441193insT	ENST00000428809.1	+	0	177				RNA5SP488_ENST00000364942.1_RNA|AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000448463.1_RNA																							TGTATTTTGAATTCTTGGAATT	0.361																																						ENST00000428809.1																			0																																																			0							g.chr21:15441192_15441193insT																													21.37:g.15441194_15441194dupT														0	177	+									RNA	INS	ENST00000428809.1	37																																																																																						0.361	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			7	377						7	377	---	---	---	---
HMGXB4	10042	broad.mit.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	A	-	rs76572304		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:35661544delA	ENST00000216106.5	+	5	1291	c.1163delA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1162-1164)gafs		HMG box domain containing 4																																				SO:0001589	frameshift_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661544delA	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1163delA	22.37:g.35661544delA	ENSP00000216106:p.Glu388fs					HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	p.E388fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	1291	+			388					O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	ENST00000216106.5	37	c.1163delA	CCDS33641.1																																																																																				0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		9	226						9	226	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		8	499						8	499	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7.0	0.0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		7	73						7	73	---	---	---	---
