#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	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	353	0	0	0	1	0	6	353				
FKBP10	60681	broad.mit.edu	37	17	39969498	39969498	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:39969498G>A	ENST00000321562.4	+	1	316	c.212G>A	c.(211-213)gGc>gAc	p.G71D	LEPREL4_ENST00000355468.3_5'Flank|LEPREL4_ENST00000393928.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	71	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CACTACAACGGCACTTTTGAA	0.592																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(211-213)gGc>gAc		FK506 binding protein 10, 65 kDa							113.0	122.0	119.0					17																	39969498		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39969498G>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.212G>A	17.37:g.39969498G>A	ENSP00000317232:p.Gly71Asp						p.G71D	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	316	+		Breast(137;0.00122)	71			PPIase FKBP-type 1.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.212G>A	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198927	0.94997	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.89681	-2.55;-2.55	5.54	5.54	0.83059	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.137803	0.47093	D	0.000242	D	0.97151	0.9069	H	0.98786	4.33	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.98667	1.0686	10	0.87932	D	0	-15.809	19.0918	0.93229	0.0:0.0:1.0:0.0	.	71	Q96AY3	FKB10_HUMAN	D	71;11;71;71	ENSP00000408232:G11D;ENSP00000317232:G71D	ENSP00000269598:G71D	G	+	2	0	FKBP10	37223024	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.423000	0.73361	2.603000	0.88011	0.655000	0.94253	GGC		0.592	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		8	904	0	0	0	1	0	8	904				
FRG1	2483	broad.mit.edu	37	4	190874258	190874258	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:190874258G>A	ENST00000226798.4	+	4	517	c.295G>A	c.(295-297)Gct>Act	p.A99T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	99					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCAGTTTACGGCTGTCAAATT	0.279																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(295-297)Gct>Act		FSHD region gene 1							12.0	12.0	12.0					4																	190874258		2087	4206	6293	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190874258G>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.295G>A	4.37:g.190874258G>A	ENSP00000226798:p.Ala99Thr					FRG1_ENST00000514482.1_3'UTR	p.A99T	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	4	517	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	99					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.295G>A	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.192157	0.78902	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.49432	1.88;0.78	3.71	3.71	0.42584	Actin cross-linking (1);	0.150032	0.64402	D	0.000015	T	0.71022	0.3291	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.77281	-0.2646	10	0.62326	D	0.03	-10.7291	13.8593	0.63550	0.0:0.0:1.0:0.0	.	99	Q14331	FRG1_HUMAN	T	99;36	ENSP00000226798:A99T;ENSP00000435943:A36T	ENSP00000226798:A99T	A	+	1	0	FRG1	191111252	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.872000	0.92352	2.022000	0.59522	0.632000	0.83419	GCT		0.279	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		9	242	0	0	0	1	0	9	242				
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A	rs62035609		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	27						integral component of membrane (GO:0016021)		p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577																																						ENST00000524087.1																			24	Substitution - coding silent(24)	p.H27H(24)	endometrium(22)|kidney(2)								c.(79-81)caC>caT		nuclear pore complex interacting protein family, member B11																																				SO:0001819	synonymous_variant	728888							g.chr16:29415043G>A			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.81C>T	16.37:g.29415043G>A						SNX29P2_ENST00000398878.3_lincRNA	p.H27H							2	155	-									Silent	SNP	ENST00000524087.1	37	c.81C>T																																																																																					0.577	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430		5	58	0	0	0	1	0	5	58				
DENND2A	27147	broad.mit.edu	37	7	140301961	140301961	+	Silent	SNP	C	C	T	rs368178368	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:140301961C>T	ENST00000275884.6	-	2	654	c.237G>A	c.(235-237)acG>acA	p.T79T	DENND2A_ENST00000496613.1_Silent_p.T79T|DENND2A_ENST00000537639.1_Silent_p.T79T|DENND2A_ENST00000492720.1_Silent_p.T79T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	79					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCTCTCCACCGTAGAGGACG	0.522																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(235-237)acG>acA		DENN/MADD domain containing 2A							156.0	152.0	153.0					7																	140301961		2004	4183	6187	SO:0001819	synonymous_variant	27147							g.chr7:140301961C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.237G>A	7.37:g.140301961C>T						DENND2A_ENST00000496613.1_Silent_p.T79T|DENND2A_ENST00000537639.1_Silent_p.T79T|DENND2A_ENST00000492720.1_Silent_p.T79T	p.T79T			Q9ULE3	DEN2A_HUMAN			2	654	-	Melanoma(164;0.00956)		79					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.237G>A	CCDS43659.1																																																																																				0.522	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		38	539	0	0	0	1	0	38	539				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	202	0	0	0	1	0	6	202				
GGH	8836	broad.mit.edu	37	8	63938741	63938741	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:63938741C>T	ENST00000260118.6	-	5	877	c.475G>A	c.(475-477)Gca>Aca	p.A159T	GGH_ENST00000518113.1_5'UTR|RP11-659E9.4_ENST00000521556.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	159	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	AGCGGCATTGCCACGTCAACA	0.418																																						ENST00000260118.6																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11						c.(475-477)Gca>Aca		gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						128.0	112.0	117.0					8																	63938741		2203	4300	6503	SO:0001583	missense	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63938741C>T	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.475G>A	8.37:g.63938741C>T	ENSP00000260118:p.Ala159Thr					GGH_ENST00000518113.1_5'UTR	p.A159T	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN			5	877	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	159			Gamma-glutamyl hydrolase.			Missense_Mutation	SNP	ENST00000260118.6	37	c.475G>A	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	C	5.839	0.338973	0.11069	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.41758	0.99	5.95	-3.11	0.05299	.	0.822583	0.11689	N	0.539106	T	0.23171	0.0560	N	0.25957	0.775	0.09310	N	1	B	0.22541	0.071	B	0.23018	0.043	T	0.29088	-1.0023	10	0.16420	T	0.52	-15.4418	7.4526	0.27248	0.2851:0.5364:0.0:0.1785	.	159	Q92820	GGH_HUMAN	T	159;120	ENSP00000260118:A159T	ENSP00000260118:A159T	A	-	1	0	GGH	64101295	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.145000	0.10265	-0.452000	0.07087	-0.466000	0.05196	GCA		0.418	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			5	446	0	0	0	1	0	5	446				
DDX60	55601	broad.mit.edu	37	4	169206628	169206628	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:169206628G>C	ENST00000393743.3	-	11	1652	c.1361C>G	c.(1360-1362)cCc>cGc	p.P454R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	454					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCCAAATTGGGCACCATTTC	0.318																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1360-1362)cCc>cGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							49.0	47.0	48.0					4																	169206628		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169206628G>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1361C>G	4.37:g.169206628G>C	ENSP00000377344:p.Pro454Arg						p.P454R	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	11	1652	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	454					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.1361C>G	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443929	0.25987	.	.	ENSG00000137628	ENST00000393743	T	0.19394	2.15	4.53	3.66	0.41972	.	0.430135	0.22084	N	0.064857	T	0.41534	0.1163	M	0.77820	2.39	0.19300	N	0.999977	D	0.71674	0.998	D	0.65684	0.937	T	0.19128	-1.0315	10	0.56958	D	0.05	.	8.3075	0.32051	0.0845:0.0:0.7589:0.1567	.	454	Q8IY21	DDX60_HUMAN	R	454	ENSP00000377344:P454R	ENSP00000377344:P454R	P	-	2	0	DDX60	169443203	0.330000	0.24705	0.051000	0.19133	0.249000	0.25844	2.143000	0.42187	0.972000	0.38314	0.557000	0.71058	CCC		0.318	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		13	378	0	0	0	1	0	13	378				
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr15:23205098G>A	ENST00000400153.2	-	0	756					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		CTGGAAGAACGTGGTTGCCAC	0.373													a|||	60	0.0119808	0.0401	0.0043	5008	,	,		17673	0.002		0.001	False		,,,				2504	0.001					ENST00000400153.2																			0																																																			0							g.chr15:23205098G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205098G>A								NR_003521.1						0	756	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	72	0	0	0	1	0	4	72				
KRTAP1-5	83895	broad.mit.edu	37	17	39183129	39183129	+	Silent	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:39183129A>G	ENST00000361883.5	-	1	325	c.279T>C	c.(277-279)acT>acC	p.T93T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	93	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCCACAGCCAGTTCCGCAGG	0.637																																						ENST00000361883.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(277-279)acT>acC		keratin associated protein 1-5							24.0	28.0	26.0					17																	39183129		2076	4218	6294	SO:0001819	synonymous_variant	83895					keratin filament		g.chr17:39183129A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.279T>C	17.37:g.39183129A>G							p.T93T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	325	-		Breast(137;0.00043)	93			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Silent	SNP	ENST00000361883.5	37	c.279T>C	CCDS42321.1																																																																																				0.637	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			5	163	0	0	0	1	0	5	163				
FAM104B	90736	broad.mit.edu	37	X	55185648	55185648	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:55185648T>A	ENST00000358460.4	-	2	187	c.34A>T	c.(34-36)Aat>Tat	p.N12Y	FAM104B_ENST00000477847.2_Missense_Mutation_p.N9Y|FAM104B_ENST00000489298.1_Missense_Mutation_p.N11Y|FAM104B_ENST00000425133.2_Missense_Mutation_p.N12Y|FAM104B_ENST00000332132.4_Missense_Mutation_p.N12Y|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000472571.2_Missense_Mutation_p.N12Y			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	12										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTACTGCCATTTCTTCTTCTT	0.373																																						ENST00000425133.2																			0				endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(34-36)Aat>Tat		family with sequence similarity 104, member B							124.0	98.0	107.0					X																	55185648		2203	4300	6503	SO:0001583	missense	90736							g.chrX:55185648T>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.34A>T	X.37:g.55185648T>A	ENSP00000364101:p.Asn12Tyr					FAM104B_ENST00000489298.1_Missense_Mutation_p.N11Y|FAM104B_ENST00000358460.4_Missense_Mutation_p.N12Y|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000477847.2_Missense_Mutation_p.N9Y|FAM104B_ENST00000332132.4_Missense_Mutation_p.N12Y|FAM104B_ENST00000472571.2_Missense_Mutation_p.N12Y	p.N12Y	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			2	72	-			12					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	c.34A>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	t	7.092	0.572368	0.13623	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000472571;ENST00000477847;ENST00000489298	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	2.17	0.965	0.19661	.	0.258372	0.26638	U	0.023273	T	0.51244	0.1663	L	0.46157	1.445	0.09310	N	1	D;D;D	0.65815	0.995;0.991;0.991	D;P;P	0.65684	0.937;0.899;0.899	T	0.37776	-0.9691	10	0.87932	D	0	-3.404	3.6048	0.08038	0.0:0.2094:0.0:0.7906	.	12;12;12	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	Y	12;12;12;12;9;11	ENSP00000364101:N12Y;ENSP00000333394:N12Y;ENSP00000397188:N12Y;ENSP00000420895:N12Y;ENSP00000421161:N9Y;ENSP00000423164:N11Y	ENSP00000333394:N12Y	N	-	1	0	FAM104B	55202373	0.757000	0.28394	0.006000	0.13384	0.126000	0.20510	0.119000	0.15626	0.181000	0.19994	0.314000	0.21332	AAT		0.373	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		4	174	0	0	0	1	0	4	174				
ZNF318	24149	broad.mit.edu	37	6	43307934	43307934	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:43307934G>C	ENST00000361428.2	-	10	3879	c.3802C>G	c.(3802-3804)Cca>Gca	p.P1268A	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1268	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATGATGTTGGTGATTCCTTC	0.403																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3802-3804)Cca>Gca		zinc finger protein 318							146.0	147.0	147.0					6																	43307934		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43307934G>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3802C>G	6.37:g.43307934G>C	ENSP00000354964:p.Pro1268Ala					ZNF318_ENST00000318149.3_Intron	p.P1268A	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	3879	-			1268			Lys-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.3802C>G	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993512	0.19043	.	.	ENSG00000171467	ENST00000361428	T	0.46063	0.88	5.16	3.37	0.38596	.	0.468764	0.19877	N	0.104057	T	0.12305	0.0299	N	0.19112	0.55	0.19300	N	0.999976	B	0.33171	0.4	B	0.33960	0.173	T	0.07654	-1.0761	10	0.56958	D	0.05	-0.0185	8.6041	0.33762	0.1777:0.0:0.8223:0.0	.	1268	Q5VUA4	ZN318_HUMAN	A	1268	ENSP00000354964:P1268A	ENSP00000354964:P1268A	P	-	1	0	ZNF318	43415912	0.336000	0.24757	0.270000	0.24601	0.907000	0.53573	0.707000	0.25704	0.740000	0.32651	0.655000	0.94253	CCA		0.403	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		19	816	0	0	0	1	0	19	816				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			5	164	0	0	0	1	0	5	164				
SLC6A13	6540	broad.mit.edu	37	12	368930	368930	+	Intron	SNP	G	G	C			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:368930G>C	ENST00000343164.4	-	2	255				RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000445055.2_Intron|SLC6A13_ENST00000436453.1_Missense_Mutation_p.P97A	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			tacatctatgGGACTCCCCAG	0.517																																						ENST00000436453.1																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(289-291)Cca>Gca		solute carrier family 6 (neurotransmitter transporter), member 13																																				SO:0001627	intron_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:368930G>C	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.202+86C>G	12.37:g.368930G>C						SLC6A13_ENST00000445055.2_Intron|SLC6A13_ENST00000343164.4_Intron	p.P97A	NM_001243392.1	NP_001230321.1	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		2	341	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		0					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.289C>G	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515535	0.44763	.	.	ENSG00000010379	ENST00000436453	T	0.57907	0.37	3.91	3.91	0.45181	.	.	.	.	.	T	0.40956	0.1138	.	.	.	0.25397	N	0.988474	P	0.34522	0.455	B	0.27076	0.076	T	0.41124	-0.9526	8	0.87932	D	0	.	11.7027	0.51579	0.0:0.0:1.0:0.0	.	97	Q8WW56	.	A	97	ENSP00000389316:P97A	ENSP00000389316:P97A	P	-	1	0	SLC6A13	239191	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	-0.389000	0.07342	2.474000	0.83562	0.467000	0.42956	CCA		0.517	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		8	84	0	0	0	1	0	8	84				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		6	428	0	0	0	1	0	6	428				
MAU2	23383	broad.mit.edu	37	19	19452209	19452209	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:19452209C>T	ENST00000392313.6	+	7	907	c.728C>T	c.(727-729)gCc>gTc	p.A243V	MAU2_ENST00000262815.8_Missense_Mutation_p.A243V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	243					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TATCTGGATGCCGGGCAGGTG	0.622																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(727-729)gCc>gTc		MAU2 sister chromatid cohesion factor							45.0	50.0	49.0					19																	19452209		2176	4270	6446	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19452209C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.728C>T	19.37:g.19452209C>T	ENSP00000376127:p.Ala243Val					MAU2_ENST00000262815.8_Missense_Mutation_p.A243V|MAU2_ENST00000585823.2_3'UTR	p.A243V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			7	774	+			243					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.728C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491074	0.26774	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	4.95	4.95	0.65309	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	N	0.16903	0.455	0.80722	D	1	B	0.26935	0.164	B	0.30943	0.122	T	0.34850	-0.9812	9	0.28530	T	0.3	.	17.1001	0.86647	0.0:1.0:0.0:0.0	.	243	Q9Y6X3	SCC4_HUMAN	V	243	.	ENSP00000262815:A243V	A	+	2	0	MAU2	19313209	1.000000	0.71417	0.873000	0.34254	0.499000	0.33736	7.610000	0.82949	2.462000	0.83206	0.561000	0.74099	GCC		0.622	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		4	138	0	0	0	1	0	4	138				
CACNA1C	775	broad.mit.edu	37	12	2797804	2797804	+	Silent	SNP	C	C	T	rs369690952		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:2797804C>T	ENST00000347598.4	+	48	6120	c.6120C>T	c.(6118-6120)tgC>tgT	p.C2040C	CACNA1C_ENST00000399644.1_Silent_p.C1992C|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399641.1_Silent_p.C1992C|CACNA1C_ENST00000399637.1_Silent_p.C2011C|CACNA1C_ENST00000399595.1_Silent_p.C2000C|CACNA1C_ENST00000399603.1_Silent_p.C1992C|CACNA1C_ENST00000399621.1_Silent_p.C2011C|CACNA1C_ENST00000406454.3_Silent_p.C2063C|CACNA1C_ENST00000399597.1_Silent_p.C1992C|CACNA1C_ENST00000399634.1_Silent_p.C2063C|CACNA1C_ENST00000399606.1_Silent_p.C2012C|CACNA1C_ENST00000399601.1_Silent_p.C1992C|CACNA1C_ENST00000344100.3_Silent_p.C2033C|CACNA1C_ENST00000399629.1_Silent_p.C2009C|CACNA1C_ENST00000399638.1_Silent_p.C2020C|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399655.1_Silent_p.C1992C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Silent_p.C2017C|CACNA1C_ENST00000327702.7_Silent_p.C2027C|CACNA1C_ENST00000402845.3_Silent_p.C2011C|CACNA1C_ENST00000399617.1_Silent_p.C2027C|CACNA1C_ENST00000399649.1_Silent_p.C1998C|CACNA1C_ENST00000399591.1_Silent_p.C2000C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2075					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATCCACTGCGGCTCCTGGG	0.721																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(5974-5976)tgC>tgT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	C	,,,,,,,,,,,,,,,,,,,,,,	0,3874		0,0,1937	40.0	47.0	45.0		5976,6120,6099,6081,6060,6036,6033,6033,6033,6027,6000,6000,5994,5976,5976,5976,5976,5967,5943,5976,6081,6156,6225	4.1	1.0	12		45	1,8267		0,1,4133	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,1,6070	TT,TC,CC		0.0121,0.0,0.0082	,,,,,,,,,,,,,,,,,,,,,,	1992/2139,2040/2187,2033/2180,2027/2174,2020/2167,2012/2159,2011/2158,2011/2158,2011/2158,2009/2156,2000/2147,2000/2147,1998/2145,1992/2139,1992/2139,1992/2139,1992/2139,1989/2136,1981/2128,1992/2139,2027/2174,2052/2199,2075/2222	2797804	1,12141	1937	4134	6071	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797804C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6120C>T	12.37:g.2797804C>T						CACNA1C_ENST00000347598.4_Silent_p.C2040C|CACNA1C_ENST00000399617.1_Silent_p.C2027C|CACNA1C_ENST00000399591.1_Silent_p.C2000C|CACNA1C_ENST00000399634.1_Silent_p.C2063C|CACNA1C_ENST00000399597.1_Silent_p.C1992C|CACNA1C_ENST00000402845.3_Silent_p.C2011C|CACNA1C_ENST00000399595.1_Silent_p.C2000C|CACNA1C_ENST00000399601.1_Silent_p.C1992C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399629.1_Silent_p.C2009C|CACNA1C_ENST00000399644.1_Silent_p.C1992C|CACNA1C_ENST00000399603.1_Silent_p.C1992C|CACNA1C_ENST00000399606.1_Silent_p.C2012C|CACNA1C_ENST00000406454.3_Silent_p.C2063C|CACNA1C_ENST00000399621.1_Silent_p.C2011C|CACNA1C_ENST00000327702.7_Silent_p.C2027C|CACNA1C_ENST00000399638.1_Silent_p.C2020C|CACNA1C_ENST00000335762.5_Silent_p.C2017C|CACNA1C_ENST00000399641.1_Silent_p.C1992C|CACNA1C_ENST00000344100.3_Silent_p.C2033C|CACNA1C_ENST00000399637.1_Silent_p.C2011C|CACNA1C_ENST00000399649.1_Silent_p.C1998C	p.C1992C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	46	6241	+			2075					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.5976C>T	CCDS44788.1																																																																																				0.721	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		6	453	0	0	0	1	0	6	453				
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		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.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(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)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|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	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(289-291)gCa>gTa		cyclin-dependent kinase inhibitor 2A							12.0	15.0	14.0					9																	21971111		2176	4259	6435	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.chr9:21971111G>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.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y	p.A97V			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)	2	582	-		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)	0		L -> R (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.290C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	84	0	0	0	1	0	6	84				
LILRB4	11006	broad.mit.edu	37	19	55179374	55179374	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:55179374C>T	ENST00000391736.1	+	14	1566	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	LILRB4_ENST00000391734.3_Silent_p.S364S|LILRB4_ENST00000430952.2_Silent_p.S416S|LILRB4_ENST00000391733.3_Silent_p.S418S|LILRB4_ENST00000270452.2_Silent_p.S417S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	417					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCTGCACAGCTTTACCCTCA	0.622																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(1249-1251)agC>agT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							91.0	95.0	93.0					19																	55179374		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179374C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1251C>T	19.37:g.55179374C>T						LILRB4_ENST00000270452.2_Silent_p.S417S|LILRB4_ENST00000430952.2_Silent_p.S416S|LILRB4_ENST00000391733.3_Silent_p.S418S|LILRB4_ENST00000391734.3_Silent_p.S364S	p.S417S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	14	1566	+			417					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	c.1251C>T	CCDS12902.1																																																																																				0.622	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			10	417	0	0	0	1	0	10	417				
PITRM1	10531	broad.mit.edu	37	10	3189836	3189836	+	Silent	SNP	G	G	A	rs539148366	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:3189836G>A	ENST00000224949.4	-	19	2197	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	PITRM1_ENST00000380989.2_Silent_p.Y722Y|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Silent_p.Y279Y|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Silent_p.Y623Y|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	721					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGATGGATGCGTACAGGTGCC	0.587													G|||	9	0.00179712	0.0	0.0	5008	,	,		16009	0.0		0.0	False		,,,				2504	0.0092					ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2164-2166)taC>taT		pitrilysin metallopeptidase 1							91.0	101.0	98.0					10																	3189836		1971	4164	6135	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3189836G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2163C>T	10.37:g.3189836G>A						PITRM1_ENST00000224949.4_Silent_p.Y721Y|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Silent_p.Y279Y|PITRM1_ENST00000451104.2_Silent_p.Y623Y	p.Y722Y	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			19	2204	-			623					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.2166C>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	1.070	-0.670155	0.03403	.	.	ENSG00000107959	ENST00000451454	.	.	.	5.69	-5.9	0.02275	.	.	.	.	.	T	0.63165	0.2488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65294	-0.6203	4	.	.	.	-34.7599	15.4475	0.75243	0.4854:0.0:0.5146:0.0	.	.	.	.	C	55	.	.	R	-	1	0	PITRM1	3179836	0.340000	0.24792	0.202000	0.23494	0.008000	0.06430	-0.149000	0.10204	-1.117000	0.02965	-0.367000	0.07326	CGC		0.587	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			5	447	0	0	0	1	0	5	447				
RPTOR	57521	broad.mit.edu	37	17	78923328	78923328	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:78923328C>G	ENST00000306801.3	+	28	3713	c.3351C>G	c.(3349-3351)gaC>gaG	p.D1117E	RPTOR_ENST00000544334.2_Missense_Mutation_p.D959E|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1117					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCTCTCGGACATGCTGCCAA	0.617																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(3349-3351)gaC>gaG		regulatory associated protein of MTOR, complex 1							146.0	139.0	141.0					17																	78923328		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78923328C>G		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3351C>G	17.37:g.78923328C>G	ENSP00000307272:p.Asp1117Glu					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.D959E	p.D1117E	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			28	3713	+			1117					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.3351C>G	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862663	0.32884	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.48836	0.82;0.8	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	L	0.39566	1.225	0.80722	D	1	D;B	0.61697	0.99;0.031	D;B	0.73380	0.98;0.01	T	0.52079	-0.8623	10	0.33940	T	0.23	.	11.2536	0.49041	0.0:0.9153:0.0:0.0847	.	959;1117	F5H7J5;Q8N122	.;RPTOR_HUMAN	E	1117;959	ENSP00000307272:D1117E;ENSP00000442479:D959E	ENSP00000307272:D1117E	D	+	3	2	RPTOR	76537923	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.572000	0.60886	2.182000	0.69389	0.462000	0.41574	GAC		0.617	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		34	631	0	0	0	1	0	34	631				
RAD51AP1	10635	broad.mit.edu	37	12	4653066	4653066	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:4653066A>G	ENST00000544927.1	+	3	215	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.K69E|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K69E|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K69E					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AACCCCTAAAAAAAGGTGAGA	0.353																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(205-207)Aaa>Gaa		RAD51 associated protein 1							47.0	44.0	45.0					12																	4653066		2203	4299	6502	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4653066A>G	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.205A>G	12.37:g.4653066A>G	ENSP00000446296:p.Lys69Glu					RAD51AP1_ENST00000321524.7_Missense_Mutation_p.K69E|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.K69E|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K69E|RAD51AP1_ENST00000543041.1_5'UTR	p.K69E	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		3	255	+			69						Missense_Mutation	SNP	ENST00000544927.1	37	c.205A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.02|15.02	2.708549|2.708549	0.48517|0.48517	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	T;T;T;T|T	0.32988|0.34072	1.43;1.43;1.43;1.43|1.38	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.120167|0.120167	0.51477|0.51477	D|N	0.000083|0.000083	T|T	0.45054|0.45054	0.1323|0.1323	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.994;0.997|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|8	0.52906|0.20046	T|T	0.07|0.44	-19.6144|-19.6144	7.6299|7.6299	0.28232|0.28232	0.9038:0.0:0.0962:0.0|0.9038:0.0:0.0962:0.0	.|.	69;69|.	Q96B01;Q96B01-2|.	R51A1_HUMAN;.|.	E|R	69|63	ENSP00000323750:K69E;ENSP00000228843:K69E;ENSP00000309479:K69E;ENSP00000446296:K69E|ENSP00000444769:K63R	ENSP00000228843:K69E|ENSP00000444769:K63R	K|K	+|+	1|2	0|0	RAD51AP1|RAD51AP1	4523327|4523327	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	3.552000|3.552000	0.53705|0.53705	1.884000|1.884000	0.54569|0.54569	0.477000|0.477000	0.44152|0.44152	AAA|AAA		0.353	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479		5	245	0	0	0	1	0	5	245				
SLC27A6	28965	broad.mit.edu	37	5	128326140	128326140	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:128326140C>T	ENST00000262462.4	+	4	1962	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L318F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L318F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	318					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTGTCGCTACCTTTGCAAACA	0.318																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(952-954)Ctt>Ttt		solute carrier family 27 (fatty acid transporter), member 6							95.0	91.0	92.0					5																	128326140		2202	4299	6501	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128326140C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.952C>T	5.37:g.128326140C>T	ENSP00000262462:p.Leu318Phe					SLC27A6_ENST00000395266.1_Missense_Mutation_p.L318F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L318F	p.L318F			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	4	1962	+		all_cancers(142;0.0483)|Prostate(80;0.055)	318					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.952C>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001462	0.74818	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	H	0.98426	4.23	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.86944	0.2081	9	.	.	.	-0.0674	12.1173	0.53872	0.0:0.9204:0.0:0.0796	.	318	Q9Y2P4	S27A6_HUMAN	F	137;318;318;318	ENSP00000421759:L137F;ENSP00000262462:L318F;ENSP00000378684:L318F;ENSP00000421024:L318F	.	L	+	1	0	SLC27A6	128354039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.144000	0.42197	2.835000	0.97688	0.650000	0.86243	CTT		0.318	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		8	202	0	0	0	1	0	8	202				
LRP5	4041	broad.mit.edu	37	11	68197125	68197125	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:68197125C>T	ENST00000294304.7	+	17	3826	c.3720C>T	c.(3718-3720)tgC>tgT	p.C1240C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1240	EGF-like 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTGCTCATGCCCAGTCCACC	0.572																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3718-3720)tgC>tgT		low density lipoprotein receptor-related protein 5							153.0	112.0	126.0					11																	68197125		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68197125C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3720C>T	11.37:g.68197125C>T							p.C1240C	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			17	3826	+			1240			EGF-like 4.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.3720C>T	CCDS8181.1																																																																																				0.572	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		5	357	0	0	0	1	0	5	357				
ANK2	287	broad.mit.edu	37	4	114280346	114280346	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:114280346C>T	ENST00000357077.4	+	38	10625	c.10572C>T	c.(10570-10572)acC>acT	p.T3524T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3524					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGTTGAGACCGAGCACTCAG	0.473																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10570-10572)acC>acT		ankyrin 2, neuronal							111.0	111.0	111.0					4																	114280346		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114280346C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10572C>T	4.37:g.114280346C>T						ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	p.T3524T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10625	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3491					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.10572C>T	CCDS3702.1																																																																																				0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	450	0	0	0	1	0	9	450				
TRPC3	7222	broad.mit.edu	37	4	122835976	122835976	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:122835976G>T	ENST00000379645.3	-	4	1373	c.1300C>A	c.(1300-1302)Cca>Aca	p.P434T	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000264811.5_Missense_Mutation_p.P361T	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	349					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCAGGAATGGAAGGCCCAGG	0.522																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1081-1083)Cca>Aca		transient receptor potential cation channel, subfamily C, member 3							116.0	88.0	97.0					4																	122835976		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122835976G>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1300C>A	4.37:g.122835976G>T	ENSP00000368966:p.Pro434Thr					TRPC3_ENST00000379645.3_Missense_Mutation_p.P434T|TRPC3_ENST00000513531.1_Intron	p.P361T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			3	1499	-			349					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1081C>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778659	0.90195	.	.	ENSG00000138741	ENST00000264811;ENST00000379645	T;T	0.76578	-1.03;-1.03	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.91432	0.7296	M	0.93638	3.44	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.72982	0.979;0.964	D	0.93272	0.6652	10	0.87932	D	0	-29.0106	19.3937	0.94596	0.0:0.0:1.0:0.0	.	349;434	Q13507;Q5G1L5	TRPC3_HUMAN;.	T	361;434	ENSP00000264811:P361T;ENSP00000368966:P434T	ENSP00000264811:P361T	P	-	1	0	TRPC3	123055426	1.000000	0.71417	0.939000	0.37840	0.922000	0.55478	9.753000	0.98904	2.586000	0.87340	0.655000	0.94253	CCA		0.522	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		4	192	1	0	0.00024832	1	0.00025366	4	192				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			9	159	0	0	0	1	0	9	159				
PDZRN4	29951	broad.mit.edu	37	12	41966629	41966629	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:41966629T>A	ENST00000402685.2	+	10	2056	c.2048T>A	c.(2047-2049)aTc>aAc	p.I683N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.I425N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.I423N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	683							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGTCAGAATATCATGCAGGCT	0.448																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1267-1269)aTc>aAc		PDZ domain containing ring finger 4							99.0	91.0	94.0					12																	41966629		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966629T>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2048T>A	12.37:g.41966629T>A	ENSP00000384197:p.Ile683Asn					PDZRN4_ENST00000402685.2_Missense_Mutation_p.I683N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.I425N	p.I423N			Q6ZMN7	PZRN4_HUMAN			10	1656	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	683			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1268T>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672946	0.67928	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	D;T;T	0.81499	-1.5;3.01;3.0	4.64	4.64	0.57946	.	0.151474	0.45126	D	0.000400	D	0.88880	0.6557	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	D	0.90408	0.4407	10	0.87932	D	0	-34.5847	14.7814	0.69769	0.0:0.0:0.0:1.0	.	683;423;425	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	683;425;423	ENSP00000384197:I683N;ENSP00000439990:I425N;ENSP00000298919:I423N	ENSP00000298919:I423N	I	+	2	0	PDZRN4	40252896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.997000	0.88414	2.049000	0.60858	0.528000	0.53228	ATC		0.448	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		8	244	0	0	0	1	0	8	244				
HDLBP	3069	broad.mit.edu	37	2	242189325	242189325	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:242189325G>A	ENST00000391975.1	-	12	1670	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	HDLBP_ENST00000427183.2_Silent_p.I448I|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Silent_p.I481I|HDLBP_ENST00000310931.4_Silent_p.I481I	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	481	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTCGATGCGGATCAAATTGC	0.537																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1441-1443)atC>atT		high density lipoprotein binding protein							204.0	156.0	173.0					2																	242189325		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242189325G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1443C>T	2.37:g.242189325G>A						HDLBP_ENST00000427183.2_Silent_p.I448I|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Silent_p.I481I|HDLBP_ENST00000310931.4_Silent_p.I481I	p.I481I	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	12	1670	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	481			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.1443C>T	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524353	0.27299	.	.	ENSG00000115677	ENST00000373292	.	.	.	5.76	1.91	0.25777	.	.	.	.	.	T	0.56992	0.2023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47947	-0.9077	4	.	.	.	-25.3058	8.197	0.31402	0.1831:0.1146:0.7023:0.0	.	.	.	.	S	290	.	.	P	-	1	0	HDLBP	241837998	1.000000	0.71417	0.846000	0.33378	0.958000	0.62258	3.394000	0.52551	0.140000	0.18849	-0.136000	0.14681	CCG		0.537	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		30	503	0	0	0	1	0	30	503				
THBS1	7057	broad.mit.edu	37	15	39881506	39881506	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr15:39881506G>A	ENST00000260356.5	+	12	2042	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	626					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CGCTTCACCGGCTCACAGCCC	0.587																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1876-1878)gGc>gAc		thrombospondin 1	Becaplermin(DB00102)						74.0	79.0	77.0					15																	39881506		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39881506G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1877G>A	15.37:g.39881506G>A	ENSP00000260356:p.Gly626Asp						p.G626D	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	12	2042	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	626			EGF-like 2; calcium-binding (Potential).		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.1877G>A	CCDS32194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.280128|5.280128	0.95489|0.95489	.|.	.|.	ENSG00000137801|ENSG00000137801	ENST00000397593|ENST00000260356	.|T	.|0.80909	.|-1.43	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Epidermal growth factor-like (1);	.|0.000000	.|0.36778	.|N	.|0.002402	D|D	0.93054|0.93054	0.7789|0.7789	H|H	0.94925|0.94925	3.6|3.6	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.94423|0.94423	0.7642|0.7642	6|10	0.87932|0.87932	D|D	0|0	-36.3388|-36.3388	19.6845|19.6845	0.95976|0.95976	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|541;626	.|B4E3J7;P07996	.|.;TSP1_HUMAN	T|D	60|626	.|ENSP00000260356:G626D	ENSP00000380721:A60T|ENSP00000260356:G626D	A|G	+|+	1|2	0|0	THBS1|THBS1	37668798|37668798	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.725000|0.725000	0.41563|0.41563	9.869000|9.869000	0.99810|0.99810	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.587	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	365	0	0	0	1	0	5	365				
PTHLH	5744	broad.mit.edu	37	12	28116383	28116383	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:28116383C>T	ENST00000545234.1	-	5	962	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PTHLH_ENST00000395868.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.R141Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000201015.4_Missense_Mutation_p.R141Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000535992.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.R141Q			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCGAGTTCGCCGTTTTTTCTT	0.542																																						ENST00000535992.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10						c.(421-423)cGg>cAg		parathyroid hormone-like hormone							175.0	153.0	160.0					12																	28116383		2203	4300	6503	SO:0001583	missense	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28116383C>T		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.422G>A	12.37:g.28116383C>T	ENSP00000441765:p.Arg141Gln					PTHLH_ENST00000538310.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000201015.4_Missense_Mutation_p.R141Q|PTHLH_ENST00000395868.3_Missense_Mutation_p.R141Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000545234.1_Missense_Mutation_p.R141Q	p.R141Q			P12272	PTHR_HUMAN			3	768	-	Lung SC(9;0.184)		141					Q15251|Q6FH74	Missense_Mutation	SNP	ENST00000545234.1	37	c.422G>A	CCDS44853.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072552	0.93950	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963	D;D;D;D;D;D;D;D;D	0.92199	-2.88;-2.88;-2.88;-2.99;-2.99;-2.87;-2.87;-2.87;-2.85	5.63	5.63	0.86233	.	0.053580	0.64402	D	0.000001	D	0.95589	0.8566	M	0.66939	2.045	0.42178	D	0.991676	D	0.76494	0.999	D	0.72625	0.978	D	0.95866	0.8887	10	0.87932	D	0	-14.8282	18.6479	0.91418	0.0:1.0:0.0:0.0	.	141	P12272	PTHR_HUMAN	Q	141	ENSP00000379213:R141Q;ENSP00000441571:R141Q;ENSP00000441765:R141Q;ENSP00000441890:R141Q;ENSP00000346398:R141Q;ENSP00000201015:R141Q;ENSP00000440613:R141Q;ENSP00000379209:R141Q;ENSP00000444519:R141Q	ENSP00000201015:R141Q	R	-	2	0	PTHLH	28007650	1.000000	0.71417	0.887000	0.34795	0.994000	0.84299	4.979000	0.63806	2.657000	0.90304	0.591000	0.81541	CGG		0.542	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		26	408	0	0	0	1	0	26	408				
GPR156	165829	broad.mit.edu	37	3	119886517	119886517	+	Missense_Mutation	SNP	G	G	A	rs143524747	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:119886517G>A	ENST00000464295.1	-	10	2252	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	GPR156_ENST00000315843.3_Missense_Mutation_p.R603W|GPR156_ENST00000461057.1_Missense_Mutation_p.R599W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	603	Poly-Arg.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.R603W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGAGCTGCCCGCCTTCTCCTC	0.592													G|||	5	0.000998403	0.0	0.0	5008	,	,		18256	0.0		0.005	False		,,,				2504	0.0					ENST00000464295.1																			1	Substitution - Missense(1)	p.R603W(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(1807-1809)Cgg>Tgg		G protein-coupled receptor 156		G	TRP/ARG,TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	34.0	36.0	35.0		1795,1807	2.2	0.4	3	dbSNP_134	35	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	GPR156	NM_001168271.1,NM_153002.2	101,101	0,16,6487	AA,AG,GG		0.1163,0.1362,0.123	probably-damaging,probably-damaging	599/811,603/815	119886517	16,12990	2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886517G>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1807C>T	3.37:g.119886517G>A	ENSP00000417261:p.Arg603Trp					GPR156_ENST00000461057.1_Missense_Mutation_p.R599W|GPR156_ENST00000315843.3_Missense_Mutation_p.R603W	p.R603W			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2252	-			603			Poly-Arg.		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1807C>T	CCDS2997.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	13.65	2.299061	0.40694	0.001362	0.001163	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.58210	0.35;0.35;0.38	5.07	2.19	0.27852	.	0.100557	0.43416	D	0.000577	T	0.43986	0.1272	L	0.36672	1.1	0.36916	D	0.891145	D;D	0.89917	1.0;1.0	P;P	0.61003	0.882;0.882	T	0.50575	-0.8812	9	.	.	.	-6.335	5.9095	0.19020	0.0732:0.1276:0.6392:0.1599	.	599;603	E9PFZ4;Q8NFN8	.;GP156_HUMAN	W	603;603;599	ENSP00000417261:R603W;ENSP00000324553:R603W;ENSP00000418758:R599W	.	R	-	1	2	GPR156	121369207	0.238000	0.23825	0.390000	0.26220	0.037000	0.13140	1.415000	0.34748	0.271000	0.22005	0.557000	0.71058	CGG		0.592	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		16	218	0	0	0	1	0	16	218				
RADIL	55698	broad.mit.edu	37	7	4917411	4917411	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:4917411G>A	ENST00000399583.3	-	2	547	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RADIL_ENST00000536091.1_Silent_p.G120G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	120	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCCAGCATCGCCGGCTTGGC	0.647																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(358-360)ggC>ggT		Ras association and DIL domains							43.0	50.0	48.0					7																	4917411		2013	4168	6181	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917411G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.360C>T	7.37:g.4917411G>A						RADIL_ENST00000536091.1_Silent_p.G120G	p.G120G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	547	-		Ovarian(82;0.0175)	120			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.360C>T	CCDS43544.1																																																																																				0.647	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		20	356	0	0	0	1	0	20	356				
TOM1L2	146691	broad.mit.edu	37	17	17766051	17766051	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:17766051C>T	ENST00000379504.3	-	11	1279	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H|TOM1L2_ENST00000581396.1_Missense_Mutation_p.R349H|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	399					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ATACGTCTTGCGCTGCTCAGC	0.527																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(1045-1047)cGc>cAc		target of myb1-like 2 (chicken)							187.0	196.0	193.0					17																	17766051		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17766051C>T	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1196G>A	17.37:g.17766051C>T	ENSP00000368818:p.Arg399His					TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R399H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H	p.R349H	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			10	1142	-	all_neural(463;0.228)		399					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.1046G>A	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564552	0.86439	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.50277	1.8;1.78;1.74;1.73;0.75	5.88	1.72	0.24424	.	0.216900	0.49305	N	0.000150	T	0.55497	0.1924	L	0.48362	1.52	0.47698	D	0.999497	B;P;D;D;B;B	0.89917	0.066;0.698;1.0;0.999;0.049;0.082	B;B;D;D;B;B	0.71414	0.01;0.098;0.973;0.923;0.006;0.014	T	0.45760	-0.9239	10	0.32370	T	0.25	-7.2771	10.4987	0.44794	0.0:0.7416:0.0:0.2584	.	301;251;346;354;399;349	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	H	399;349;354;346;301;251	ENSP00000368818:R399H;ENSP00000379088:R354H;ENSP00000438621:R346H;ENSP00000437655:R301H;ENSP00000445188:R251H	ENSP00000312860:R349H	R	-	2	0	TOM1L2	17706776	0.996000	0.38824	0.965000	0.40720	0.969000	0.65631	2.836000	0.48183	0.116000	0.18110	0.655000	0.94253	CGC		0.527	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			9	1091	0	0	0	1	0	9	1091				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	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	230	0	0	0	1	0	5	230				
OXSM	54995	broad.mit.edu	37	3	25832597	25832597	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:25832597G>T	ENST00000280701.3	+	2	185	c.86G>T	c.(85-87)aGg>aTg	p.R29M	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Missense_Mutation_p.R29M|OXSM_ENST00000449808.1_3'UTR	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	29					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGAAGTAAAAGGAAGTTTTTC	0.403																																						ENST00000280701.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(85-87)aGg>aTg		3-oxoacyl-ACP synthase, mitochondrial							130.0	128.0	129.0					3																	25832597		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25832597G>T	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.86G>T	3.37:g.25832597G>T	ENSP00000280701:p.Arg29Met					OXSM_ENST00000420173.2_Missense_Mutation_p.R29M|OXSM_ENST00000449808.1_3'UTR	p.R29M	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN			2	185	+			29						Missense_Mutation	SNP	ENST00000280701.3	37	c.86G>T	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	2.156	-0.393253	0.04899	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	3.7	0.885	0.19188	.	1.235100	0.05357	N	0.533001	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;B	0.41848	0.763;0.327	B;B	0.43360	0.417;0.087	T	0.20505	-1.0273	9	0.72032	D	0.01	-0.3908	4.2462	0.10672	0.3102:0.1799:0.5099:0.0	.	29;29	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	M	29	.	ENSP00000280701:R29M	R	+	2	0	OXSM	25807601	0.003000	0.15002	0.002000	0.10522	0.296000	0.27459	0.424000	0.21330	0.548000	0.28955	0.561000	0.74099	AGG		0.403	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		19	688	1	0	1.01871e-10	1	1.06349e-10	19	688				
PDE10A	10846	broad.mit.edu	37	6	165806202	165806202	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:165806202G>A	ENST00000366882.1	-	17	1713	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	520					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.A520V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TACAGTGACCGCATGCTTCCA	0.438																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - Missense(1)	p.A520V(1)	breast(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1558-1560)gCg>gTg		phosphodiesterase 10A	Dipyridamole(DB00975)						172.0	134.0	147.0					6																	165806202		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165806202G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1559C>T	6.37:g.165806202G>A	ENSP00000355847:p.Ala520Val					PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V	p.A520V			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	17	1713	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	520					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1559C>T		.	.	.	.	.	.	.	.	.	.	G	24.6	4.554837	0.86231	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.88818	-2.43;-2.43	5.43	4.56	0.56223	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.047408	0.85682	D	0.000000	D	0.91509	0.7319	M	0.81942	2.565	0.58432	D	0.999999	D;D	0.71674	0.989;0.998	P;P	0.59171	0.465;0.853	D	0.91174	0.4971	10	0.41790	T	0.15	.	15.5814	0.76445	0.0:0.0:0.8611:0.1389	.	530;520	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	520;548;530;520;519	ENSP00000355847:A520V;ENSP00000346435:A520V	ENSP00000341187:A530V	A	-	2	0	PDE10A	165726192	1.000000	0.71417	0.209000	0.23619	0.911000	0.54048	9.074000	0.93998	1.275000	0.44379	0.585000	0.79938	GCG		0.438	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			6	510	0	0	0	1	0	6	510				
FAM86B3P	286042	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:8095990C>G	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		CCAGGAGCCCCGAGACCTGCA	0.647																																						ENST00000523017.1																			0																																																			0							g.chr8:8095990C>G			8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8095990C>G														0	608	-									RNA	SNP	ENST00000310542.3	37																																																																																						0.647	FAM86B3P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000448496.1			3	17	0	0	0	1	0	3	17				
NAPSA	9476	broad.mit.edu	37	19	50861863	50861863	+	Missense_Mutation	SNP	G	G	A	rs562029819		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:50861863G>A	ENST00000253719.2	-	9	1418	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	404					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCGCTCCGCGAGTGCGAGCG	0.697																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1210-1212)Cgc>Tgc		napsin A aspartic peptidase							13.0	15.0	14.0					19																	50861863		2195	4291	6486	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50861863G>A	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1210C>T	19.37:g.50861863G>A	ENSP00000253719:p.Arg404Cys					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.R404C	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	9	1418	-		all_neural(266;0.057)	404					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1210C>T	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887283	0.52014	.	.	ENSG00000131400	ENST00000253719	T	0.52983	0.64	3.38	2.31	0.28768	.	0.766391	0.11657	N	0.542216	T	0.39886	0.1095	L	0.38175	1.15	0.09310	N	1	D	0.56968	0.978	P	0.44477	0.451	T	0.20672	-1.0268	10	0.72032	D	0.01	.	9.1465	0.36937	0.0:0.2257:0.7743:0.0	.	404	O96009	NAPSA_HUMAN	C	404	ENSP00000253719:R404C	ENSP00000253719:R404C	R	-	1	0	NAPSA	55553675	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	1.090000	0.30902	0.688000	0.31529	-0.463000	0.05309	CGC		0.697	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		6	102	0	0	0	1	0	6	102				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			8	274	0	0	0	1	0	8	274				
ATXN2L	11273	broad.mit.edu	37	16	28846701	28846701	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:28846701C>T	ENST00000336783.4	+	20	2833	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	ATXN2L_ENST00000564304.1_Missense_Mutation_p.A895V|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A889V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A889V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A889V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A889V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A889V	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	889					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCCAGCATGCGGCCCCCAGT	0.632																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2665-2667)gCg>gTg		ataxin 2-like							45.0	44.0	44.0					16																	28846701		2197	4299	6496	SO:0001583	missense	11273					membrane		g.chr16:28846701C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2666C>T	16.37:g.28846701C>T	ENSP00000338718:p.Ala889Val					ATXN2L_ENST00000564304.1_Missense_Mutation_p.A895V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A889V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A889V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A889V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A889V|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A889V	p.A889V	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			20	2833	+			889					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2666C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	11.14	1.552144	0.27739	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.50548	0.74;0.76;0.74;0.74;0.75	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000006	T	0.55862	0.1947	N	0.24115	0.695	0.51012	D	0.999907	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.78314	0.991;0.98;0.98;0.991;0.991;0.98;0.991	T	0.57596	-0.7784	10	0.48119	T	0.1	-10.6994	17.2962	0.87171	0.0:1.0:0.0:0.0	.	889;889;889;889;889;889;889	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	V	889	ENSP00000341459:A889V;ENSP00000378917:A889V;ENSP00000338718:A889V;ENSP00000372133:A889V;ENSP00000315650:A889V	ENSP00000315650:A889V	A	+	2	0	ATXN2L	28754202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.609000	0.61148	2.613000	0.88420	0.563000	0.77884	GCG		0.632	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		4	153	0	0	0	1	0	4	153				
NCOA6	23054	broad.mit.edu	37	20	33345759	33345759	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr20:33345759C>T	ENST00000374796.2	-	8	3362	c.792G>A	c.(790-792)caG>caA	p.Q264Q	NCOA6_ENST00000359003.2_Silent_p.Q264Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	264	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q264Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgctgctgctgct	0.532																																						ENST00000374796.2																			1	Substitution - coding silent(1)	p.Q264Q(1)	endometrium(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(790-792)caG>caA		nuclear receptor coactivator 6							60.0	52.0	55.0					20																	33345759		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345759C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.792G>A	20.37:g.33345759C>T						NCOA6_ENST00000359003.2_Silent_p.Q264Q	p.Q264Q			Q14686	NCOA6_HUMAN			8	3362	-			264			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.792G>A	CCDS13241.1																																																																																				0.532	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	179	0	0	0	1	0	4	179				
ZNF521	25925	broad.mit.edu	37	18	22806967	22806967	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:22806967G>A	ENST00000361524.3	-	4	1063	c.915C>T	c.(913-915)agC>agT	p.S305S	ZNF521_ENST00000538137.2_Silent_p.S305S|ZNF521_ENST00000584787.1_Silent_p.S85S|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	305					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCTTCTCCCCGCTATGCACCT	0.547			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(913-915)agC>agT		zinc finger protein 521							115.0	108.0	110.0					18																	22806967		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806967G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.915C>T	18.37:g.22806967G>A						ZNF521_ENST00000584787.1_Silent_p.S85S|ZNF521_ENST00000538137.2_Silent_p.S305S	p.S305S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1063	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		305					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.915C>T	CCDS32806.1																																																																																				0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		8	242	0	0	0	1	0	8	242				
ATG9A	79065	broad.mit.edu	37	2	220088423	220088423	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:220088423G>A	ENST00000409618.1	-	10	1922	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	ATG9A_ENST00000396761.2_Missense_Mutation_p.R495C|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Missense_Mutation_p.R495C|ATG9A_ENST00000409422.1_Missense_Mutation_p.R434C			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	495					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCGTGGGCGCAGGCAGAAG	0.547																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(1483-1485)Cgc>Tgc		autophagy related 9A							61.0	70.0	67.0					2																	220088423		2017	4178	6195	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220088423G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1483C>T	2.37:g.220088423G>A	ENSP00000386710:p.Arg495Cys					ATG9A_ENST00000396761.2_Missense_Mutation_p.R495C|ATG9A_ENST00000361242.4_Missense_Mutation_p.R495C|ATG9A_ENST00000409422.1_Missense_Mutation_p.R434C	p.R495C			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1922	-		Renal(207;0.0474)	495					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.1483C>T	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524608	0.44969	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	T;T;T;T;T	0.35789	1.78;1.78;1.78;1.36;1.29	5.78	5.78	0.91487	.	0.097761	0.64402	D	0.000002	T	0.60625	0.2283	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59461	-0.7450	10	0.46703	T	0.11	-13.2095	15.6059	0.76672	0.0:0.0:0.8619:0.1381	.	495	Q7Z3C6	ATG9A_HUMAN	C	495;495;495;434;54	ENSP00000379983:R495C;ENSP00000386710:R495C;ENSP00000355173:R495C;ENSP00000386535:R434C;ENSP00000400234:R54C	ENSP00000355173:R495C	R	-	1	0	ATG9A	219796667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.119000	0.64679	2.729000	0.93468	0.650000	0.86243	CGC		0.547	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		4	242	0	0	0	1	0	4	242				
SLC18A3	6572	broad.mit.edu	37	10	50819671	50819671	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:50819671C>T	ENST00000374115.3	+	1	1325	c.885C>T	c.(883-885)gcC>gcT	p.A295A	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	295					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.A295A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGTGGTGGCCGGCGCGCTCA	0.642																																						ENST00000374115.3																			1	Substitution - coding silent(1)	p.A295A(1)	large_intestine(1)	endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(883-885)gcC>gcT		solute carrier family 18 (vesicular acetylcholine transporter), member 3							64.0	61.0	62.0					10																	50819671		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819671C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.885C>T	10.37:g.50819671C>T						CHAT_ENST00000339797.1_Intron	p.A295A	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1325	+			295					B2R7S1	Silent	SNP	ENST00000374115.3	37	c.885C>T	CCDS7231.1																																																																																				0.642	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		6	314	0	0	0	1	0	6	314				
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	AGTTGAGTCCGCATGCCAATG	0.507																																						ENST00000245206.5																			3	Substitution - Missense(3)	p.R355W(2)|p.R355G(1)	prostate(1)|lung(1)|endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(1063-1065)Cgg>Tgg		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						222.0	211.0	215.0					16																	58743428		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58743428G>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1063C>T	16.37:g.58743428G>A	ENSP00000245206:p.Arg355Trp					GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	p.R355W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			9	1191	-			355					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.1063C>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418094	0.62622	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	T;T	0.34275	1.37;1.37	5.31	0.557	0.17260	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.85130	0.874;0.997	T	0.76583	-0.2906	9	.	.	.	-0.235	9.3835	0.38329	0.0714:0.0:0.526:0.4025	.	312;355	E7ERW2;P00505	.;AATM_HUMAN	W	355;312	ENSP00000245206:R355W;ENSP00000394100:R312W	.	R	-	1	2	GOT2	57300929	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	1.345000	0.33953	0.584000	0.29591	-0.128000	0.14901	CGG		0.507	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			8	959	0	0	0	1	0	8	959				
COTL1	23406	broad.mit.edu	37	16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	0					defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(427-429)taA>taC		coactosin-like 1 (Dictyostelium)							37.0	39.0	38.0					16																	84600451		2198	4300	6498	SO:0001578	stop_lost	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600451T>G	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.429A>C	16.37:g.84600451T>G						COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	p.*143Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	591	-			0					B2RDU3|D3DUL9|Q86XM5	Nonstop_Mutation	SNP	ENST00000262428.4	37	c.429A>C	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	T	5.605	0.296286	0.10622	.	.	ENSG00000103187	ENST00000262428	.	.	.	5.04	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4446	0.27203	0.0:0.342:0.0:0.658	.	.	.	.	Y	143	.	.	X	-	3	2	COTL1	83157952	0.029000	0.19370	0.896000	0.35187	0.170000	0.22686	0.122000	0.15687	-0.053000	0.13289	-0.441000	0.05720	TAA		0.622	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		7	116	0	0	0	1	0	7	116				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			7	171	0	0	0	1	0	7	171				
C18orf8	29919	broad.mit.edu	37	18	21110072	21110072	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:21110072C>T	ENST00000269221.3	+	17	1685	c.1575C>T	c.(1573-1575)caC>caT	p.H525H	C18orf8_ENST00000590868.1_Silent_p.H477H|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	525	Mic1.					lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCAGTACCACGTCCTCAGCG	0.393																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(1573-1575)caC>caT		chromosome 18 open reading frame 8							240.0	245.0	243.0					18																	21110072		2203	4300	6503	SO:0001819	synonymous_variant	29919							g.chr18:21110072C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1575C>T	18.37:g.21110072C>T						C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_Silent_p.H477H	p.H525H	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			17	1685	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		525			Mic1.		Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	c.1575C>T	CCDS32803.1																																																																																				0.393	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		38	1556	0	0	0	1	0	38	1556				
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		5	359	0	0	0	1	0	5	359				
ANKRD36B	57730	broad.mit.edu	37	2	98177318	98177318	+	RNA	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:98177318G>A	ENST00000443455.1	-	0	879							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TGTTTCTGAGGAGACACTGAA	0.299																																						ENST00000443455.1																			0													ankyrin repeat domain 36B							25.0	21.0	22.0					2																	98177318		1025	2177	3202			57730							g.chr2:98177318G>A	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98177318G>A										Q8N2N9	AN36B_HUMAN			0	879	-								Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	ENST00000443455.1	37																																																																																						0.299	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		4	80	0	0	0	1	0	4	80				
ZNF763	284390	broad.mit.edu	37	19	12088187	12088187	+	Splice_Site	SNP	G	G	A	rs374392113		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:12088187G>A	ENST00000358987.3	+	3	259	c.132G>A	c.(130-132)ggG>ggA	p.G44G	ZNF763_ENST00000538752.1_Splice_Site_p.G64G|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000343949.5_Splice_Site_p.G47G|ZNF763_ENST00000590798.1_Splice_Site_p.G64G			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GTATTTTAGGGAAAAAGTGGA	0.353																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.e3-1		zinc finger protein 763		G		0,4406		0,0,2203	86.0	88.0	88.0		141	-1.6	0.0	19		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice	ZNF763	NM_001012753.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		47/398	12088187	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	284390							g.chr19:12088187G>A	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.131-1G>A	19.37:g.12088187G>A						ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000590798.1_Splice_Site_p.G64_splice|ZNF763_ENST00000538752.1_Splice_Site_p.G64_splice|ZNF763_ENST00000358987.3_Splice_Site_p.G44_splice|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000591944.1_Intron	p.G47_splice	NM_001012753.1	NP_001012771.1					3	296	+								B3KRU3|B4DRE7	Splice_Site	SNP	ENST00000358987.3	37	c.139_splice																																																																																					0.353	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753	Silent	5	437	0	0	0	1	0	5	437				
ZNF747	65988	broad.mit.edu	37	16	30544358	30544358	+	3'UTR	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:30544358G>A	ENST00000252799.3	-	0	1265				AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000569360.1_Missense_Mutation_p.A152V|ZNF747_ENST00000568028.1_Missense_Mutation_p.A152V|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000535210.1_Missense_Mutation_p.A152V|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						CTCCAACCCGGCAAAGGGGGC	0.682																																						ENST00000569360.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(454-456)gCc>gTc		zinc finger protein 747							35.0	40.0	39.0					16																	30544358		2197	4300	6497	SO:0001624	3_prime_UTR_variant	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544358G>A	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.*22C>T	16.37:g.30544358G>A						ZNF747_ENST00000535210.1_Missense_Mutation_p.A152V|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000568028.1_Missense_Mutation_p.A152V	p.A152V			Q9BV97	ZN747_HUMAN			3	627	-			40					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.455C>T	CCDS10682.1	.	.	.	.	.	.	.	.	.	.	G	7.985	0.751947	0.15778	.	.	ENSG00000169955	ENST00000535210	T	0.04970	3.52	2.73	1.74	0.24563	.	.	.	.	.	T	0.06917	0.0176	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41179	-0.9523	6	0.28530	T	0.3	.	9.4028	0.38442	0.0:0.2209:0.7791:0.0	.	.	.	.	V	152	ENSP00000441702:A152V	ENSP00000441702:A152V	A	-	2	0	ZNF747	30451859	0.030000	0.19436	0.001000	0.08648	0.004000	0.04260	0.757000	0.26433	0.480000	0.27534	-0.802000	0.03209	GCC		0.682	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		6	184	0	0	0	1	0	6	184				
OVOL1	5017	broad.mit.edu	37	11	65554913	65554913	+	Silent	SNP	C	C	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:65554913C>G	ENST00000335987.3	+	1	421	c.69C>G	c.(67-69)ccC>ccG	p.P23P	RP11-770G2.4_ENST00000527453.1_RNA|RP11-770G2.4_ENST00000532454.1_RNA|RP11-770G2.4_ENST00000534178.1_RNA	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	23					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCGAGCTCCCCGACGAGGAGC	0.721																																						ENST00000335987.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(67-69)ccC>ccG		ovo-like zinc finger 1							29.0	29.0	29.0					11																	65554913		2192	4284	6476	SO:0001819	synonymous_variant	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65554913C>G	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.69C>G	11.37:g.65554913C>G							p.P23P	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	1	421	+			23					Q6PCB1	Silent	SNP	ENST00000335987.3	37	c.69C>G	CCDS8112.1																																																																																				0.721	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		5	39	0	0	0	1	0	5	39				
APCDD1	147495	broad.mit.edu	37	18	10485496	10485496	+	Missense_Mutation	SNP	A	A	G	rs547035524		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:10485496A>G	ENST00000355285.5	+	4	1166	c.812A>G	c.(811-813)tAt>tGt	p.Y271C	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CGGATCATCTATCGGTCAGAC	0.602													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19374	0.0		0.0	False		,,,				2504	0.0					ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(811-813)tAt>tGt		adenomatosis polyposis coli down-regulated 1							127.0	113.0	118.0					18																	10485496		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10485496A>G	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.812A>G	18.37:g.10485496A>G	ENSP00000347433:p.Tyr271Cys					APCDD1_ENST00000578882.1_Intron	p.Y271C	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	4	1166	+			271						Missense_Mutation	SNP	ENST00000355285.5	37	c.812A>G	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937161	0.34189	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18016	2.24	4.9	2.39	0.29439	.	0.373449	0.31872	N	0.006924	T	0.25865	0.0630	L	0.54323	1.7	0.80722	D	1	P	0.49307	0.922	P	0.54346	0.749	T	0.00719	-1.1595	10	0.48119	T	0.1	-27.5474	9.1807	0.37141	0.5802:0.0:0.0:0.4198	.	271	Q8J025	APCD1_HUMAN	C	271;322	ENSP00000347433:Y271C	ENSP00000347433:Y271C	Y	+	2	0	APCDD1	10475496	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	2.380000	0.44327	0.314000	0.23086	0.454000	0.30748	TAT		0.602	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		26	489	0	0	0	1	0	26	489				
CDH18	1016	broad.mit.edu	37	5	19612555	19612555	+	Missense_Mutation	SNP	G	G	A	rs375530344		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:19612555G>A	ENST00000507958.1	-	8	1789	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	CDH18_ENST00000382275.1_Missense_Mutation_p.R267C|CDH18_ENST00000502796.1_Missense_Mutation_p.R267C|CDH18_ENST00000274170.4_Missense_Mutation_p.R267C|CDH18_ENST00000506372.1_Missense_Mutation_p.R267C|CDH18_ENST00000511273.1_Missense_Mutation_p.R267C			Q13634	CAD18_HUMAN	cadherin 18, type 2	267	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGGAAAGCGTGGTGGGTTG	0.378																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(799-801)Cgc>Tgc		cadherin 18, type 2							176.0	161.0	166.0					5																	19612555		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19612555G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.799C>T	5.37:g.19612555G>A	ENSP00000425093:p.Arg267Cys					CDH18_ENST00000511273.1_Missense_Mutation_p.R267C|CDH18_ENST00000382275.1_Missense_Mutation_p.R267C|CDH18_ENST00000502796.1_Missense_Mutation_p.R267C|CDH18_ENST00000506372.1_Missense_Mutation_p.R267C|CDH18_ENST00000274170.4_Missense_Mutation_p.R267C	p.R267C			Q13634	CAD18_HUMAN			8	1789	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		267			Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.799C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252883	0.39797	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.95	0.216	0.15258	Cadherin (3);Cadherin-like (1);	0.101818	0.64402	D	0.000006	T	0.52597	0.1744	L	0.52573	1.65	0.22017	N	0.99941	D;P	0.76494	0.999;0.591	P;B	0.61275	0.886;0.109	T	0.55477	-0.8135	9	.	.	.	.	16.4031	0.83649	0.0:0.0:0.3577:0.6423	.	267;267	B4DHG6;Q13634	.;CAD18_HUMAN	C	267;267;267;267;267;267;213;267	ENSP00000371710:R267C;ENSP00000425093:R267C;ENSP00000274170:R267C;ENSP00000424931:R267C;ENSP00000422138:R267C;ENSP00000427383:R213C;ENSP00000425854:R267C	.	R	-	1	0	CDH18	19648312	0.325000	0.24660	0.889000	0.34880	0.102000	0.19082	1.230000	0.32612	0.088000	0.17205	0.563000	0.77884	CGC		0.378	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		10	328	0	0	0	1	0	10	328				
MAMLD1	10046	broad.mit.edu	37	X	149639651	149639651	+	Silent	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:149639651A>G	ENST00000370401.2	+	4	2116	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	602	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcaacagcagcagc	0.602																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1804-1806)caA>caG		mastermind-like domain containing 1							77.0	68.0	71.0					X																	149639651		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639651A>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1806A>G	X.37:g.149639651A>G						MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q	p.Q602Q			Q13495	MAMD1_HUMAN			4	2116	+	Acute lymphoblastic leukemia(192;6.56e-05)		602			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.1806A>G	CCDS14693.2																																																																																				0.602	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	213	0	0	0	1	0	5	213				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	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>gAt		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>T	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>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	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>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	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		22	292	0	0	0	1	0	22	292				
NBPF10	100132406	broad.mit.edu	37	1	145359109	145359109	+	Missense_Mutation	SNP	T	T	A	rs3967942	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr1:145359109T>A	ENST00000342960.5	+	72	9084	c.9049T>A	c.(9049-9051)Tgt>Agt	p.C3017S	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	575						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C3017S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTGAACTGTGTGACTCATG	0.483													.|||	520	0.103834	0.1944	0.1297	5008	,	,		8025	0.0357		0.0726	False		,,,				2504	0.0654					ENST00000342960.5																			1	Substitution - Missense(1)	p.C3017S(1)	endometrium(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9049-9051)Tgt>Agt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145359109T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9049T>A	1.37:g.145359109T>A	ENSP00000345684:p.Cys3017Ser					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.C3017S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	72	9084	+	all_hematologic(923;0.032)		3017					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9049T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481396	0.00163	.	.	ENSG00000163386	ENST00000342960	T	0.05513	3.43	.	.	.	.	.	.	.	.	T	0.00412	0.0013	N	0.01640	-0.785	0.09310	N	1	.	.	.	.	.	.	T	0.44205	-0.9343	5	0.02654	T	1	.	.	.	.	rs3967942	.	.	.	S	3017	ENSP00000345684:C3017S	ENSP00000345684:C3017S	C	+	1	0	NBPF10	144070466	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.392000	0.07314	-0.792000	0.04480	0.128000	0.15822	TGT		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	220	0	0	0	1	0	6	220				
ANKRD24	170961	broad.mit.edu	37	19	4217177	4217177	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:4217177G>A	ENST00000600132.1	+	18	2296	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A764T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A674T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	674										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAACATGGAGGCCACGGGCTC	0.612																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(2020-2022)Gcc>Acc		ankyrin repeat domain 24							24.0	31.0	28.0					19																	4217177		2143	4248	6391	SO:0001583	missense	170961							g.chr19:4217177G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2020G>A	19.37:g.4217177G>A	ENSP00000471252:p.Ala674Thr					ANKRD24_ENST00000262970.5_Missense_Mutation_p.A764T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A674T	p.A674T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	2296	+			674					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.2020G>A	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	13.81	2.347909	0.41599	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.39229	1.12;1.09	2.05	0.887	0.19200	.	.	.	.	.	T	0.24353	0.0590	N	0.19112	0.55	0.22975	N	0.998482	P;D	0.53885	0.937;0.963	B;B	0.41174	0.143;0.349	T	0.12091	-1.0561	9	0.24483	T	0.36	.	8.2537	0.31741	0.0:0.0:0.7599:0.2401	.	674;764	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	T	674;764	ENSP00000321731:A674T;ENSP00000262970:A764T	ENSP00000262970:A764T	A	+	1	0	ANKRD24	4168177	0.032000	0.19561	0.033000	0.17914	0.010000	0.07245	0.256000	0.18351	0.156000	0.19299	0.407000	0.27541	GCC		0.612	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		6	85	0	0	0	1	0	6	85				
DDX11	1663	broad.mit.edu	37	12	31238023	31238023	+	Missense_Mutation	SNP	G	G	A	rs200798160		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:31238023G>A	ENST00000407793.2	+	5	852	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	DDX11_ENST00000228264.6_Missense_Mutation_p.E175K|DDX11_ENST00000545668.1_Missense_Mutation_p.E201K|DDX11_ENST00000350437.4_Missense_Mutation_p.E201K|DDX11_ENST00000251758.5_Missense_Mutation_p.E201K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K	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	201	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)			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)					GGTCCTCGCCGAATACGAGAG	0.617										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			0				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.(601-603)Gaa>Aaa		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							25.0	27.0	26.0					12																	31238023		2202	4290	6492	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.chr12:31238023G>A	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.601G>A	12.37:g.31238023G>A	ENSP00000384703:p.Glu201Lys	Multiple Myeloma(12;0.14)				DDX11_ENST00000545668.1_Missense_Mutation_p.E201K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K|DDX11_ENST00000350437.4_Missense_Mutation_p.E201K|DDX11_ENST00000228264.6_Missense_Mutation_p.E175K|DDX11_ENST00000407793.2_Missense_Mutation_p.E201K	p.E201K			Q96FC9	DDX11_HUMAN			5	852	+	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)		201			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.601G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483780	0.63962	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.80994	-1.44;-0.58;4.09;-1.33;0.2;4.03;-0.58;-1.14	3.7	3.7	0.42460	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.89223	0.6654	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.998;0.999	D	0.90374	0.4383	10	0.59425	D	0.04	.	13.0553	0.58977	0.0:0.0:1.0:0.0	.	201;201;201;201	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	K	201;201;201;175;172;175;201;201	ENSP00000443426:E201K;ENSP00000384703:E201K;ENSP00000251758:E201K;ENSP00000228264:E175K;ENSP00000407646:E172K;ENSP00000406457:E175K;ENSP00000440402:E201K;ENSP00000309965:E201K	ENSP00000228264:E175K	E	+	1	0	DDX11	31129290	1.000000	0.71417	0.016000	0.15963	0.202000	0.24057	8.091000	0.89528	1.895000	0.54865	0.505000	0.49811	GAA		0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		3	45	0	0	0	1	0	3	45				
C3orf20	84077	broad.mit.edu	37	3	14813595	14813595	+	Missense_Mutation	SNP	C	C	A	rs199806806		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:14813595C>A	ENST00000253697.3	+	16	2969	c.2517C>A	c.(2515-2517)agC>agA	p.S839R	C3orf20_ENST00000412910.1_Missense_Mutation_p.S717R|C3orf20_ENST00000435614.1_Missense_Mutation_p.S717R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	839						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGTCCTGAGCCTGGAGGATT	0.572																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(2515-2517)agC>agA		chromosome 3 open reading frame 20							94.0	87.0	89.0					3																	14813595		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14813595C>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2517C>A	3.37:g.14813595C>A	ENSP00000253697:p.Ser839Arg					C3orf20_ENST00000435614.1_Missense_Mutation_p.S717R|C3orf20_ENST00000412910.1_Missense_Mutation_p.S717R	p.S839R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			16	2969	+			839					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.2517C>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445678	0.25987	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08546	3.37;3.08;3.08	2.95	2.95	0.34219	.	0.876695	0.09658	N	0.772847	T	0.08044	0.0201	N	0.19112	0.55	0.09310	N	1	P;P	0.39157	0.662;0.662	B;B	0.42422	0.387;0.387	T	0.32613	-0.9900	10	0.51188	T	0.08	-2.1017	9.6058	0.39632	0.0:1.0:0.0:0.0	.	717;839	Q8ND61-2;Q8ND61	.;CC020_HUMAN	R	839;717;717	ENSP00000253697:S839R;ENSP00000402933:S717R;ENSP00000396081:S717R	ENSP00000253697:S839R	S	+	3	2	C3orf20	14788599	0.012000	0.17670	0.029000	0.17559	0.038000	0.13279	1.422000	0.34826	1.957000	0.56846	0.491000	0.48974	AGC		0.572	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		5	197	1	0	1	1	1	5	197				
CDC27	996	broad.mit.edu	37	17	45234708	45234708	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:45234708A>G	ENST00000066544.3	-	6	611	c.518T>C	c.(517-519)tTa>tCa	p.L173S	CDC27_ENST00000531206.1_Missense_Mutation_p.L173S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Missense_Mutation_p.L173S|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	173					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.L173S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGTTCTGTAAAGATGTGAA	0.383																																						ENST00000066544.3																			1	Substitution - Missense(1)	p.L173S(1)	NS(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(517-519)tTa>tCa		cell division cycle 27							77.0	77.0	77.0					17																	45234708		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234708A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.518T>C	17.37:g.45234708A>G	ENSP00000066544:p.Leu173Ser					CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.L173S|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S|CDC27_ENST00000527547.1_Missense_Mutation_p.L173S	p.L173S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			6	611	-			173					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.518T>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822437	0.50739	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69175	-0.37;-0.34;-0.17;-0.38;0.74	5.39	5.39	0.77823	.	0.250879	0.32328	N	0.006250	T	0.52980	0.1768	L	0.29908	0.895	0.50313	D	0.99986	P;B;B;B	0.38250	0.624;0.119;0.057;0.072	B;B;B;B	0.34590	0.186;0.143;0.083;0.062	T	0.54241	-0.8323	10	0.33141	T	0.24	-12.8267	13.3763	0.60741	1.0:0.0:0.0:0.0	.	112;173;173;173	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	173;173;112;173;173	ENSP00000066544:L173S;ENSP00000434614:L173S;ENSP00000392802:L112S;ENSP00000437339:L173S;ENSP00000432105:L173S	ENSP00000066544:L173S	L	-	2	0	CDC27	42589707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.315000	0.89983	2.053000	0.61076	0.528000	0.53228	TTA		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			5	373	0	0	0	1	0	5	373				
SPATA31D1	389763	broad.mit.edu	37	9	84607354	84607354	+	Missense_Mutation	SNP	C	C	G	rs527382695		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr9:84607354C>G	ENST00000344803.2	+	4	2016	c.1969C>G	c.(1969-1971)Cct>Gct	p.P657A		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	657					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGCTCCCAATCCTGAATTGGT	0.473																																						ENST00000344803.2																			0											c.(1969-1971)Cct>Gct		SPATA31 subfamily D, member 1							97.0	96.0	96.0					9																	84607354		1853	4099	5952	SO:0001583	missense	389763							g.chr9:84607354C>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1969C>G	9.37:g.84607354C>G	ENSP00000341988:p.Pro657Ala						p.P657A	NM_001001670.2	NP_001001670.1					4	2016	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.1969C>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	0.068	-1.208708	0.01568	.	.	ENSG00000214929	ENST00000344803	T	0.06687	3.27	3.36	-6.71	0.01760	.	2.901690	0.01128	N	0.005932	T	0.07503	0.0189	L	0.42245	1.32	0.09310	N	1	B	0.28713	0.22	B	0.38225	0.268	T	0.37753	-0.9692	10	0.12430	T	0.62	2.2681	0.5365	0.00638	0.3571:0.186:0.1181:0.3388	.	657	Q6ZQQ2	F75D1_HUMAN	A	657	ENSP00000341988:P657A	ENSP00000341988:P657A	P	+	1	0	FAM75D1	83797174	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.455000	0.02379	-2.568000	0.00469	-0.169000	0.13324	CCT		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		4	300	0	0	0	1	0	4	300				
CROCCP2	84809	broad.mit.edu	37	1	16956761	16956761	+	lincRNA	SNP	C	C	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr1:16956761C>G	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCTGGACCTGCCCTGGGGCAG	0.647																																						ENST00000412962.1																			0																																																			0							g.chr1:16956761C>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956761C>G														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.647	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	30	0	0	0	1	0	5	30				
HSD17B7P2	158160	broad.mit.edu	37	10	38645343	38645343	+	RNA	SNP	C	C	T	rs68021090		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:38645343C>T	ENST00000494540.1	+	0	36					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		AAAGCAGCGGCGGCGTTTGCT	0.597																																						ENST00000494540.1																			0																																																			0							g.chr10:38645343C>T			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38645343C>T								NR_003086.1						0	36	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.597	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		10	46	0	0	0	1	0	10	46				
RYR1	6261	broad.mit.edu	37	19	38958285	38958285	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:38958285C>T	ENST00000359596.3	+	25	3214	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1072C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1072C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1072	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R1072C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGACCGGGTGCGCATCTTCCG	0.572																																						ENST00000355481.4																			1	Substitution - Missense(1)	p.R1072C(1)	large_intestine(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3214-3216)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						103.0	97.0	99.0					19																	38958285		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958285C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3214C>T	19.37:g.38958285C>T	ENSP00000352608:p.Arg1072Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.R1072C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1072C	p.R1072C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3345	+	all_cancers(60;7.91e-06)		1072			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3214C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.686114	0.29962	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97688	-4.49;-4.49;-4.49	2.92	2.92	0.33932	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000016	D	0.98604	0.9533	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99053	1.0828	10	0.87932	D	0	.	14.736	0.69416	0.0:1.0:0.0:0.0	.	1072;1072	P21817-2;P21817	.;RYR1_HUMAN	C	1072	ENSP00000352608:R1072C;ENSP00000347667:R1072C;ENSP00000354254:R1072C	ENSP00000347667:R1072C	R	+	1	0	RYR1	43650125	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	5.533000	0.67160	1.966000	0.57179	0.154000	0.16183	CGC		0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			21	499	0	0	0	1	0	21	499				
DDHD2	23259	broad.mit.edu	37	8	38110300	38110300	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:38110300A>G	ENST00000397166.2	+	14	2203	c.1678A>G	c.(1678-1680)Atg>Gtg	p.M560V	DDHD2_ENST00000529845.1_Missense_Mutation_p.M11V|DDHD2_ENST00000520272.2_Missense_Mutation_p.M560V|DDHD2_ENST00000517385.1_Missense_Mutation_p.M179V	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	560	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ATTTGAGCCAATGCTGATCCC	0.453																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(1678-1680)Atg>Gtg		DDHD domain containing 2							149.0	130.0	136.0					8																	38110300		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38110300A>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1678A>G	8.37:g.38110300A>G	ENSP00000380352:p.Met560Val					DDHD2_ENST00000520272.2_Missense_Mutation_p.M560V|DDHD2_ENST00000517385.1_Missense_Mutation_p.M179V|DDHD2_ENST00000529845.1_Missense_Mutation_p.M11V	p.M560V	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		14	2203	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	560			DDHD.		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1678A>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	5.136	0.210761	0.09757	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845	T;T	0.24908	1.83;1.83	5.34	5.34	0.76211	DDHD (2);	0.038953	0.85682	D	0.000000	T	0.12902	0.0313	N	0.11000	0.08	0.50813	D	0.999897	B	0.14012	0.009	B	0.15052	0.012	T	0.07065	-1.0792	10	0.02654	T	1	-27.1583	14.7906	0.69841	1.0:0.0:0.0:0.0	.	560	O94830	DDHD2_HUMAN	V	560;560;179;11	ENSP00000380352:M560V;ENSP00000429932:M560V	ENSP00000380352:M560V	M	+	1	0	DDHD2	38229457	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.405000	0.66351	2.143000	0.66587	0.260000	0.18958	ATG		0.453	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		23	267	0	0	0	1	0	23	267				
NELFE	7936	broad.mit.edu	37	6	31923047	31923047	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:31923047G>A	ENST00000375429.3	-	5	541	c.315C>T	c.(313-315)ccC>ccT	p.P105P	NELFE_ENST00000444811.2_Silent_p.P105P|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000375425.5_Silent_p.P112P	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	105					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GCTGGAAAGTGGGGACTGGTC	0.557																																						ENST00000375429.3																			0											c.(313-315)ccC>ccT		negative elongation factor complex member E							128.0	121.0	123.0					6																	31923047		1511	2709	4220	SO:0001819	synonymous_variant	7936							g.chr6:31923047G>A	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.315C>T	6.37:g.31923047G>A						NELFE_ENST00000375425.5_Silent_p.P112P|NELFE_ENST00000444811.2_Silent_p.P105P	p.P105P	NM_002904.5	NP_002895.3					5	541	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	ENST00000375429.3	37	c.315C>T	CCDS4730.1																																																																																				0.557	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			21	441	0	0	0	1	0	21	441				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	152	0	0	0	1	0	6	152				
RP1-274L7.1	0	broad.mit.edu	37	X	129629412	129629412	+	lincRNA	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:129629412G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							TGTCCTGACCGCCAAAGATTT	0.368																																						ENST00000458525.1																			0																				148.0	144.0	145.0					X																	129629412		2203	4300	6503			0							g.chrX:129629412G>A																													X.37:g.129629412G>A						FAM45B_ENST00000592932.1_RNA								0	1015	-									RNA	SNP	ENST00000458525.1	37																																																																																						0.368	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1			6	592	0	0	0	1	0	6	592				
CDHR2	54825	broad.mit.edu	37	5	176003131	176003131	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:176003131C>T	ENST00000510636.1	+	12	1413	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	CDHR2_ENST00000506348.1_Missense_Mutation_p.A380V|CDHR2_ENST00000261944.5_Missense_Mutation_p.A380V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	380	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACGAGCATGCCTCCCCCCGC	0.632																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1138-1140)gCc>gTc		cadherin-related family member 2							102.0	86.0	92.0					5																	176003131		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176003131C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1139C>T	5.37:g.176003131C>T	ENSP00000424565:p.Ala380Val					CDHR2_ENST00000506348.1_Missense_Mutation_p.A380V|CDHR2_ENST00000261944.5_Missense_Mutation_p.A380V	p.A380V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			12	1413	+			380			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1139C>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	9.075	0.997877	0.19043	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.61392	0.11;0.11;0.11	4.54	3.68	0.42216	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.49898	0.1584	L	0.56124	1.755	0.19945	N	0.999946	B	0.10296	0.003	B	0.10450	0.005	T	0.36335	-0.9752	9	0.18276	T	0.48	-16.43	10.4136	0.44307	0.0:0.9088:0.0:0.0912	.	380	Q9BYE9	CDHR2_HUMAN	V	380	ENSP00000424565:A380V;ENSP00000261944:A380V;ENSP00000421078:A380V	ENSP00000261944:A380V	A	+	2	0	CDHR2	175935737	0.673000	0.27539	0.192000	0.23308	0.160000	0.22226	1.965000	0.40471	1.136000	0.42199	0.549000	0.68633	GCC		0.632	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		5	296	0	0	0	1	0	5	296				
HLA-DMB	3109	broad.mit.edu	37	6	32906460	32906460	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:32906460C>T	ENST00000418107.2	-	2	600		c.e2+1		XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Splice_Site	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTCTCCTCACGTGTCCTGTT	0.582																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.e2+1		major histocompatibility complex, class II, DM beta							104.0	106.0	105.0					6																	32906460		1510	2708	4218	SO:0001630	splice_region_variant	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906460C>T		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.337+1G>A	6.37:g.32906460C>T						XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|HLA-DMB_ENST00000418107.2_Splice_Site				P28068	DMB_HUMAN			2	532	-								O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Splice_Site	SNP	ENST00000418107.2	37		CCDS4760.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169133	0.57584	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000414017;ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.823	0.63333	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XXbac-BPG181M17.5;HLA-DMB	33014438	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	2.081000	0.41596	2.631000	0.89168	0.637000	0.83480	.		0.582	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118	Intron	7	283	0	0	0	1	0	7	283				
ARHGEF10	9639	broad.mit.edu	37	8	1841800	1841800	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:1841800G>A	ENST00000398564.1	+	12	1323	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	ARHGEF10_ENST00000398560.1_Silent_p.K402K|ARHGEF10_ENST00000518288.1_Silent_p.K441K|ARHGEF10_ENST00000349830.3_Silent_p.K416K|ARHGEF10_ENST00000520359.1_Silent_p.K378K|ARHGEF10_ENST00000262112.6_Silent_p.K441K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	441	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGCTCTTAAGAGGATTTTGG	0.313																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(1321-1323)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 10							134.0	130.0	131.0					8																	1841800		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1841800G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1323G>A	8.37:g.1841800G>A						ARHGEF10_ENST00000398560.1_Silent_p.K402K|ARHGEF10_ENST00000520359.1_Silent_p.K378K|ARHGEF10_ENST00000262112.6_Silent_p.K441K|ARHGEF10_ENST00000349830.3_Silent_p.K416K|ARHGEF10_ENST00000398564.1_Silent_p.K441K	p.K441K			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	13	1486	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	441			DH.		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.1323G>A																																																																																					0.313	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				19	316	0	0	0	1	0	19	316				
CLCC1	23155	broad.mit.edu	37	1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-	rs150759040		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)aagfs	p.K514fs	CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1540-1542)agfs		chloride channel CLIC-like 1							144.0	130.0	135.0					1																	109477407		2203	4300	6503	SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477407delT	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1541delA	1.37:g.109477407delT	ENSP00000358988:p.Lys514fs					CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs	p.K514fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1670	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	514					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Del	DEL	ENST00000369971.2	37	c.1541delA	CCDS41362.1																																																																																				0.597	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		9	735						9	735	---	---	---	---
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	1,4261		0,1,2130					,,	-3.4	0.0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs					EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		13	544						13	544	---	---	---	---
GATAD2B	57459	broad.mit.edu	37	1	153785793	153785793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr1:153785793delT	ENST00000368655.4	-	8	1595	c.1352delA	c.(1351-1353)aagfs	p.K451fs		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	451	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTTAGAGCCTTTTTCTGGTT	0.468																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1351-1353)agfs		GATA zinc finger domain containing 2B							215.0	186.0	196.0					1																	153785793		2203	4300	6503	SO:0001589	frameshift_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153785793delT	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1352delA	1.37:g.153785793delT	ENSP00000357644:p.Lys451fs						p.K451fs	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	1595	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		451			CR2.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Frame_Shift_Del	DEL	ENST00000368655.4	37	c.1352delA	CCDS1054.1																																																																																				0.468	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		8	829						8	829	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			0							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			12	14						12	14	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T	rs374250838|rs369805878|rs199562278	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292														393	0.0784744	0.1354	0.0533	5008	,	,		61150	0.0546		0.0567	False		,,,				2504	0.0665					ENST00000436174.1																			0																																																			0							g.chr2:91887905_91887906insT																													2.37:g.91887916_91887916dupT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			7	217						7	217	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10312062	10312064	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:10312062_10312064delGCA	ENST00000287652.4	+	4	2247_2249	c.1196_1198delGCA	c.(1195-1200)ggcagc>ggc	p.S402del	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_In_Frame_Del_p.S402del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	402					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCCTCCACAGGCAGCAGCAGCAA	0.552																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1195-1200)ggc>g		TatD DNase domain containing 2																																				SO:0001651	inframe_deletion	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312062_10312064delGCA	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1196_1198delGCA	3.37:g.10312071_10312073delGCA	ENSP00000287652:p.Ser402del					RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_In_Frame_Del_p.GS399del	p.GS399del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2247_2249	+			399					Q3MIL9|Q5BKU0	In_Frame_Del	DEL	ENST00000287652.4	37	c.1196_1198delGCA	CCDS33698.1																																																																																				0.552	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		7	683						7	683	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:33602361delT	ENST00000468888.2	-	28	2939	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000399362.4_Frame_Shift_Del_p.M964fs			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_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs	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		10	753						10	753	---	---	---	---
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gttfs	p.V100fs	CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(298-300)gtfs		chemokine (C-C motif) receptor 3							181.0	175.0	177.0					3																	46306948		2203	4300	6503	SO:0001589	frameshift_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306948delT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.299delT	3.37:g.46306948delT	ENSP00000350003:p.Val100fs					CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs	p.V100fs			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	842	+			100					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	ENST00000357422.2	37	c.299delT	CCDS2738.1																																																																																				0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			7	1139						7	1139	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		10	1250						10	1250	---	---	---	---
TLR1	7096	broad.mit.edu	37	4	38798148	38798148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:38798148delA	ENST00000502213.2	-	3	2534	c.2305delT	c.(2305-2307)tggfs	p.W769fs	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Frame_Shift_Del_p.W769fs			Q15399	TLR1_HUMAN	toll-like receptor 1	769	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAGTTAGCCCAAAAAAGGCCA	0.418																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(2305-2307)ggfs		toll-like receptor 1							85.0	80.0	82.0					4																	38798148		2203	4300	6503	SO:0001589	frameshift_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798148delA	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2305delT	4.37:g.38798148delA	ENSP00000421259:p.Trp769fs					TLR1_ENST00000502213.2_Frame_Shift_Del_p.W769fs	p.W769fs	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	2578	-			769			TIR.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Frame_Shift_Del	DEL	ENST00000502213.2	37	c.2305delT	CCDS33973.1																																																																																				0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			8	374						8	374	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			10	927						10	927	---	---	---	---
CDO1	1036	broad.mit.edu	37	5	115148957	115148958	+	Splice_Site	INS	-	-	A	rs571899483	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:115148957_115148958insA	ENST00000250535.4	-	2	727		c.e2-2		CDO1_ENST00000502631.1_Splice_Site	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1						cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	CGGGTATACCTAAAAAAAAACA	0.332													?|AAAAAAAAA|AAAAAAAAAA|unsure	5	0.000998403	0.0	0.0	5008	,	,		16421	0.002		0.0	False		,,,				2504	0.0031					ENST00000250535.4																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11						c.e2-2		cysteine dioxygenase type 1	L-Cysteine(DB00151)|NADH(DB00157)			7,4257		0,7,2125						5.8	1.0			77	13,8235		0,13,4111	no	splice-3	CDO1	NM_001801.2		0,20,6236	A1A1,A1R,RR		0.1576,0.1642,0.1598				20,12492				SO:0001630	splice_region_variant	1036				inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	g.chr5:115148957_115148958insA		CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.171-2->T	5.37:g.115148966_115148966dupA						CDO1_ENST00000502631.1_Splice_Site		NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	2	727	-		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)						B2RAK4|P78513|Q6FHZ8|Q8TB64	Splice_Site	INS	ENST00000250535.4	37		CCDS4121.1																																																																																				0.332	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250853.2	NM_001801	Intron	7	235						7	235	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_ENST00000360453.4_In_Frame_Del_p.S760del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.S799del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.S735del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	799	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601																																						ENST00000309241.5																			1	Substitution - Missense(1)	p.S795N(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2380-2385)gac>ga		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216400_149216402delCAG	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2382_2384delCAG	5.37:g.149216409_149216411delCAG	ENSP00000312649:p.Ser799del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del	p.DS794del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2414_2416	+			794			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2382_2384delCAG	CCDS4298.1																																																																																				0.601	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		7	552						7	552	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	CCT	-	rs546542545		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:26384091_26384093delCCT	ENST00000356709.4	+	2	153_155	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L24del	BTN2A2_ENST00000352867.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.L24del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	24					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(40-45)tcc>tc		butyrophilin, subfamily 2, member A2																																				SO:0001651	inframe_deletion	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26384091_26384093delCCT	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.42_44delCCT	6.37:g.26384100_26384102delCCT	ENSP00000349143:p.Leu24del					BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del	p.SL14del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			2	153_155	+			14					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	In_Frame_Del	DEL	ENST00000356709.4	37	c.42_44delCCT	CCDS4606.1																																																																																				0.581	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			7	346						7	346	---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27834859	27834859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:27834859delT	ENST00000331442.3	-	1	500	c.449delA	c.(448-450)aagfs	p.K150fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	150					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.K150R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTCACTGCCTTTTTCGCCCC	0.622																																						ENST00000331442.3																			1	Substitution - Missense(1)	p.K150R(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(448-450)agfs		histone cluster 1, H1b							97.0	111.0	106.0					6																	27834859		2203	4299	6502	SO:0001589	frameshift_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834859delT	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.449delA	6.37:g.27834859delT	ENSP00000330074:p.Lys150fs						p.K150fs	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	500	-			150					Q14529|Q3MJ42	Frame_Shift_Del	DEL	ENST00000331442.3	37	c.449delA	CCDS4635.1																																																																																				0.622	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		8	1430						8	1430	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e8+1		intestinal cell (MAK-like) kinase							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_ENST00000350082.5_Splice_Site_p.K221_splice	p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			8	1151	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	DEL	ENST00000350082.5	37	c.663_splice	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Frame_Shift_Del	7	989						7	989	---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95614249	95614249	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:95614249delT	ENST00000324972.6	+	8	947	c.754delT	c.(754-756)tttfs	p.F253fs	DYNC1I1_ENST00000537881.1_Frame_Shift_Del_p.F216fs|DYNC1I1_ENST00000457059.1_Frame_Shift_Del_p.F236fs|DYNC1I1_ENST00000447467.2_Frame_Shift_Del_p.F236fs|DYNC1I1_ENST00000437599.1_Frame_Shift_Del_p.F233fs|DYNC1I1_ENST00000359388.4_Frame_Shift_Del_p.F216fs	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	253					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTCCGACATCTTTTTTGACTA	0.383																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(754-756)ttfs		dynein, cytoplasmic 1, intermediate chain 1							110.0	113.0	112.0					7																	95614249		2203	4299	6502	SO:0001589	frameshift_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95614249delT	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.754delT	7.37:g.95614249delT	ENSP00000320130:p.Phe253fs					DYNC1I1_ENST00000359388.4_Frame_Shift_Del_p.F216fs|DYNC1I1_ENST00000447467.2_Frame_Shift_Del_p.F236fs|DYNC1I1_ENST00000457059.1_Frame_Shift_Del_p.F236fs|DYNC1I1_ENST00000437599.1_Frame_Shift_Del_p.F233fs|DYNC1I1_ENST00000537881.1_Frame_Shift_Del_p.F216fs	p.F253fs	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		8	947	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		253					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Frame_Shift_Del	DEL	ENST00000324972.6	37	c.754delT	CCDS5644.1																																																																																				0.383	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		9	902						9	902	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116955171	116955175	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:116955171_116955175delTCCTT	ENST00000265441.3	-	3	837_841	c.538_542delAAGGA	c.(538-543)aaggatfs	p.KD180fs	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	180					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTCTGGCAtcctttcctttcctt	0.463																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(538-543)tfs		wingless-type MMTV integration site family member 2																																				SO:0001589	frameshift_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955171_116955175delTCCTT	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.538_542delAAGGA	7.37:g.116955181_116955185delTCCTT	ENSP00000265441:p.Lys180fs					AC002465.2_ENST00000436097.1_RNA	p.KD180fs	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	837_841	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		180					A4D0V1|Q75N05|Q9UDP9	Frame_Shift_Del	DEL	ENST00000265441.3	37	c.538_542delAAGGA	CCDS5771.1																																																																																				0.463	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		8	703						8	703	---	---	---	---
MICU3	286097	broad.mit.edu	37	8	16944491	16944491	+	Frame_Shift_Del	DEL	A	A	-	rs199759760		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:16944491delA	ENST00000318063.5	+	7	838	c.796delA	c.(796-798)aaafs	p.K267fs		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	267	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										GATATTCAGGAAAAAAAATGA	0.348																																						ENST00000318063.5																			0											c.(796-798)aafs		mitochondrial calcium uptake family, member 3							81.0	87.0	85.0					8																	16944491		2203	4300	6503	SO:0001589	frameshift_variant	286097							g.chr8:16944491delA	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.796delA	8.37:g.16944491delA	ENSP00000321455:p.Lys267fs						p.K267fs	NM_181723.2	NP_859074.1					7	838	+								Q8IYZ3	Frame_Shift_Del	DEL	ENST00000318063.5	37	c.796delA	CCDS5999.1																																																																																				0.348	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		7	241						7	241	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22021060	22021061	+	5'Flank	DEL	GT	GT	-	rs149538549		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:22021060_22021061delGT	ENST00000306385.5	+	0	0				BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000522109.1_Frame_Shift_Del_p.V146fs|SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000306349.8_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.M146fs*41(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAACTTCCAGGTGTGTGTGTGT	0.545																																						ENST00000522109.1																			1	Unknown(1)	p.M146fs*41(1)	large_intestine(1)	autonomic_ganglia(1)|large_intestine(1)|lung(1)	3	GRCh37	CS014615|CS022505	SFTPC	S	rs149538549	c.(436-438)gfs		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22021060_22021061delGT		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021070_22021071delGT	Exception_encountered					SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site	p.V146fs			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	4	460_461	+			146			BRICHOS.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Del	DEL	ENST00000306385.5	37	c.436_437delGT	CCDS6026.1																																																																																				0.545	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		8	249						8	249	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30695261	30695261	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:30695261delT	ENST00000256246.2	-	3	7464	c.7390delA	c.(7390-7392)agtfs	p.S2464fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2464					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCATGTACACTTTTTTGGTCA	0.358																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7390-7392)gtfs		testis expressed 15							141.0	144.0	143.0					8																	30695261		2203	4300	6503	SO:0001589	frameshift_variant	56154							g.chr8:30695261delT	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7390delA	8.37:g.30695261delT	ENSP00000256246:p.Ser2464fs						p.S2464fs	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7464	-			2464						Frame_Shift_Del	DEL	ENST00000256246.2	37	c.7390delA	CCDS6080.1																																																																																				0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			7	1170						7	1170	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797539	117797539	+	Frame_Shift_Del	DEL	G	G	-	rs148674204	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr9:117797539delG	ENST00000350763.4	-	22	6142	c.5731delC	c.(5731-5733)cggfs	p.R1911fs	TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGATGCCCGGGGGGGTCGC	0.478																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(5731-5733)ggfs		tenascin C							81.0	83.0	82.0					9																	117797539		2203	4300	6503	SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797539delG		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5731delC	9.37:g.117797539delG	ENSP00000265131:p.Arg1911fs					TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs	p.R1911fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			22	6142	-			1911			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Del	DEL	ENST00000350763.4	37	c.5731delC	CCDS6811.1																																																																																				0.478	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	578						7	578	---	---	---	---
C10orf12	26148	broad.mit.edu	37	10	98741564	98741565	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:98741564_98741565insA	ENST00000286067.2	+	1	524_525	c.417_418insA	c.(418-420)aagfs	p.K140fs		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	140										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAACCTCCATCAAGACAGCTCG	0.436																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(415-420)atagacfs		chromosome 10 open reading frame 12																																				SO:0001589	frameshift_variant	26148							g.chr10:98741564_98741565insA	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.419dupA	10.37:g.98741566_98741566dupA	ENSP00000286067:p.Lys140fs						p.D140fs	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	524_525	+		Colorectal(252;0.172)	140					Q9H945|Q9Y457	Frame_Shift_Ins	INS	ENST00000286067.2	37	c.417_418insA	CCDS7452.1																																																																																				0.436	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		7	451						7	451	---	---	---	---
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)ttcdel	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(310-312)del		olfactory receptor, family 10, subfamily A, member 5																																				SO:0001651	inframe_deletion	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867223_6867225delTTC	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.310_312delTTC	11.37:g.6867232_6867234delTTC	ENSP00000299454:p.Phe108del					OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del	p.F108del			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	341_343	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	108					O95223|Q52M66|Q96R21|Q96R22	In_Frame_Del	DEL	ENST00000299454.4	37	c.310_312delTTC	CCDS7773.1																																																																																				0.517	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		7	504						7	504	---	---	---	---
ST5	6764	broad.mit.edu	37	11	8751790	8751791	+	Frame_Shift_Ins	INS	-	-	C	rs142688671		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:8751790_8751791insC	ENST00000534127.1	-	6	1431_1432	c.1046_1047insG	c.(1045-1047)ggcfs	p.G349fs	ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Frame_Shift_Ins_p.G349fs|ST5_ENST00000313726.6_Frame_Shift_Ins_p.G349fs	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	349					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGGGTGGGCCCGCCTCCCC	0.678																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1045-1047)gccfs		suppression of tumorigenicity 5																																				SO:0001589	frameshift_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751790_8751791insC	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1047dupG	11.37:g.8751793_8751793dupC	ENSP00000433528:p.Gly349fs					ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Frame_Shift_Ins_p.A349fs|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Frame_Shift_Ins_p.A349fs	p.A349fs	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1431_1432	-			349					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Frame_Shift_Ins	INS	ENST00000534127.1	37	c.1046_1047insG	CCDS7791.1																																																																																				0.678	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		9	419						9	419	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			10	22						10	22	---	---	---	---
UBL3	5412	broad.mit.edu	37	13	30351362	30351363	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr13:30351362_30351363delTT	ENST00000380680.4	-	2	1210_1211	c.65_66delAA	c.(64-66)aaafs	p.K22fs		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	22	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		ACAGGAACTCTTTTGTTTTTCC	0.317																																						ENST00000380680.4																			0				large_intestine(3)|lung(1)	4						c.(64-66)afs		ubiquitin-like 3																																				SO:0001589	frameshift_variant	5412					intracellular|plasma membrane		g.chr13:30351362_30351363delTT	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.65_66delAA	13.37:g.30351364_30351365delTT	ENSP00000370055:p.Lys22fs						p.K22fs	NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)	2	1210_1211	-		Lung SC(185;0.0281)	22			Ubiquitin-like.		B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Frame_Shift_Del	DEL	ENST00000380680.4	37	c.65_66delAA	CCDS9334.1																																																																																				0.317	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106		25	358						25	358	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			9	353						9	353	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409538	22409540	+	RNA	DEL	TCT	TCT	-	rs2178778|rs200693606|rs367992314|rs374912343|rs371270332	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr14:22409538_22409540delTCT	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		tctctctctctctTTTTTTTTTT	0.424																																						ENST00000390441.2																			0																																																			0							g.chr14:22409538_22409540delTCT	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409538_22409540delTCT														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.424	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		7	48						7	48	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88940113	88940113	+	Frame_Shift_Del	DEL	T	T	-	rs535011015		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr14:88940113delT	ENST00000556564.1	-	14	2829	c.2545delA	c.(2545-2547)attfs	p.I849fs	PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	849					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						AGAGGACCAATTTTTTTTGCA	0.393																																						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.(2545-2547)ttfs		protein tyrosine phosphatase, non-receptor type 21							181.0	171.0	175.0					14																	88940113		2203	4300	6503	SO:0001589	frameshift_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88940113delT	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.2545delA	14.37:g.88940113delT	ENSP00000452414:p.Ile849fs					PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			14	2829	-			849						Frame_Shift_Del	DEL	ENST00000556564.1	37	c.2545delA	CCDS9884.1																																																																																				0.393	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	581						8	581	---	---	---	---
RPS6KA5	9252	broad.mit.edu	37	14	91366489	91366489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr14:91366489delT	ENST00000261991.3	-	11	1515	c.1342delA	c.(1342-1344)agtfs	p.S448fs	RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.S369fs|RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.S448fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	448	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCTTGGTTACTTTTTTTATGC	0.323																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1342-1344)gtfs		ribosomal protein S6 kinase, 90kDa, polypeptide 5							91.0	92.0	92.0					14																	91366489		2203	4300	6503	SO:0001589	frameshift_variant	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91366489delT	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1342delA	14.37:g.91366489delT	ENSP00000261991:p.Ser448fs					RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.S448fs|RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.S369fs	p.S448fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	11	1515	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	448			Protein kinase 2.		O95316|Q96AF7	Frame_Shift_Del	DEL	ENST00000261991.3	37	c.1342delA	CCDS9893.1																																																																																				0.323	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		7	665						7	665	---	---	---	---
IGHJ6	28475	broad.mit.edu	37	14	106329451	106329453	+	RNA	DEL	GTA	GTA	-	rs373021870|rs2338626|rs2338627|rs67183528|rs2338628|rs376479093	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr14:106329451_106329453delGTA	ENST00000390560.2	-	0	15_17				IGHJ4_ENST00000461719.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHD7-27_ENST00000439842.1_RNA|IGHJ1_ENST00000390565.1_RNA|IGHJ5_ENST00000488476.1_RNA|IGHJ3_ENST00000463911.1_RNA					immunoglobulin heavy joining 6																		AGACGTCCATGTAGTAGTAGTAG	0.537																																						ENST00000390560.2																			0																																																			0							g.chr14:106329451_106329453delGTA	J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106329460_106329462delGTA														0	15_17	-									RNA	DEL	ENST00000390560.2	37																																																																																						0.537	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1	NG_001019		9	597						9	597	---	---	---	---
LOC283683	283683	broad.mit.edu	37	15	23108635	23108636	+	RNA	INS	-	-	T	rs145228617|rs71117492|rs561368770	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr15:23108635_23108636insT	ENST00000557922.1	-	0	378					NR_040057.1																						caatatttaaatttttttaatt	0.262																																						ENST00000557922.1																			0																																																			0							g.chr15:23108635_23108636insT																													15.37:g.23108642_23108642dupT								NR_040057.1						0	378	-									RNA	INS	ENST00000557922.1	37																																																																																						0.262	RP11-566K19.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415896.1			4	7						4	7	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25456925	25456925	+	RNA	DEL	G	G	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr15:25456925delG	ENST00000424208.1	+	0	2516				SNORD115-22_ENST00000364456.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-24_ENST00000363528.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTGTGGGCAGGGGGGGTGCC	0.557																																						ENST00000424208.1																			0																				213.0	225.0	221.0					15																	25456925		876	1991	2867			0							g.chr15:25456925delG			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.25456925delG						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2516	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.557	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			10	1261						10	1261	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54630575	54630576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr15:54630575_54630576insC	ENST00000260323.11	+	16	4601_4602	c.4601_4602insC	c.(4600-4605)agccccfs	p.SP1534fs	UNC13C_ENST00000545554.1_Frame_Shift_Ins_p.SP1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.SP1532fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCTGCAAAGCCCCCCAAAAG	0.401																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4600-4602)accfs		unc-13 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54630575_54630576insC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4607dupC	15.37:g.54630581_54630581dupC	ENSP00000260323:p.Ser1534fs					UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs|UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs	p.T1534fs			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	16	4601_4602	+			1534					Q0P613|Q8ND48|Q96NP3	Frame_Shift_Ins	INS	ENST00000260323.11	37	c.4601_4602insC	CCDS45264.1																																																																																				0.401	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		11	613						11	613	---	---	---	---
NPIPB3	23117	broad.mit.edu	37	16	21415920	21415931	+	In_Frame_Del	DEL	GCTGAGGGTGGA	GCTGAGGGTGGA	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:21415920_21415931delGCTGAGGGTGGA	ENST00000448012.2	-	9	1232_1243	c.1193_1204delTCCACCCTCAGC	c.(1192-1206)ctccaccctcagcag>cag	p.LHPQ398del	NPIPB3_ENST00000458643.2_In_Frame_Del_p.259_263APPSA>A|NPIPB3_ENST00000542817.1_Intron	NM_130464.2	NP_569731.2	Q92617	NPIB3_HUMAN	nuclear pore complex interacting protein family, member B3	570	Pro-rich.					integral component of membrane (GO:0016021)											ATTATCATCTGCTGAGGGTGGAGCTGAGGGTG	0.604																																						ENST00000458643.2																			0											c.(775-789)gca>gc		nuclear pore complex interacting protein family, member B3																																				SO:0001651	inframe_deletion	23117							g.chr16:21415920_21415931delGCTGAGGGTGGA			16p12.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000169246	ENSG00000169246			28989	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 3"""	NPIPL3		11948212	Standard	NM_130464		Approved	KIAA0220	uc021tei.1	Q92617	OTTHUMG00000163506	ENST00000448012.2:c.1193_1204delTCCACCCTCAGC	16.37:g.21415920_21415931delGCTGAGGGTGGA	ENSP00000390496:p.Leu398_Gln401del					NPIPB3_ENST00000448012.2_In_Frame_Del_p.LHPQQ398del|NPIPB3_ENST00000542817.1_Intron	p.APPSA259del							7	1328_1339	-								O43332|Q504Q6|Q59F29|Q6GMR1|Q6P7T2|Q6PIE2|Q6RH21	In_Frame_Del	DEL	ENST00000448012.2	37	c.777_788delTCCACCCTCAGC																																																																																					0.604	NPIPB3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_130464		2	4						2	4	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-	rs140499762		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_ENST00000569071.1_In_Frame_Del_p.S436del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.S557del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.S436del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.S557del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.S522del	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_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del	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		12	281						12	281	---	---	---	---
CTRL	1506	broad.mit.edu	37	16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(712-714)acfs		chymotrypsin-like							139.0	137.0	138.0					16																	67963919		2198	4300	6498	SO:0001589	frameshift_variant	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963919delT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.713delA	16.37:g.67963919delT	ENSP00000458537:p.Asn238fs						p.N238fs	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1274	-		Ovarian(137;0.192)	238			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000574481.1	37	c.713delA	CCDS10852.1																																																																																				0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			7	562						7	562	---	---	---	---
LOC100287072	100287072	broad.mit.edu	37	17	20623667	20623668	+	RNA	INS	-	-	TT	rs539058062|rs10686537	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:20623667_20623668insTT	ENST00000578210.1	+	0	150					NR_073509.1																						cgcccggctaattttttttttt	0.574																																						ENST00000578210.1																			0																																																			0							g.chr17:20623667_20623668insTT																													17.37:g.20623676_20623677dupTT								NR_073509.1						0	150	+									RNA	INS	ENST00000578210.1	37																																																																																						0.574	AC126365.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443937.1			5	8						5	8	---	---	---	---
TRIM25	7706	broad.mit.edu	37	17	54978862	54978862	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:54978862delT	ENST00000316881.4	-	4	1054	c.1005delA	c.(1003-1005)aaafs	p.K335fs	TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	335	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GGTGGATGCCTTTTATCAGCT	0.547																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1003-1005)aafs		tripartite motif containing 25							430.0	383.0	399.0					17																	54978862		2203	4300	6503	SO:0001589	frameshift_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54978862delT	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1005delA	17.37:g.54978862delT	ENSP00000323889:p.Lys335fs					TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs	p.K335fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			4	1054	-	Breast(9;6.15e-08)		335			Interaction with influenza A virus NS1.			Frame_Shift_Del	DEL	ENST00000316881.4	37	c.1005delA	CCDS11591.1																																																																																				0.547	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		7	1716						7	1716	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11326596	11326596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:11326596delT	ENST00000294618.7	-	31	3913	c.3902delA	c.(3901-3903)aagfs	p.K1301fs	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1301					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTCAAAGGCCTTTTTCCCCTG	0.542																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3901-3903)agfs		dedicator of cytokinesis 6							93.0	87.0	89.0					19																	11326596		1908	4113	6021	SO:0001589	frameshift_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11326596delT		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3902delA	19.37:g.11326596delT	ENSP00000294618:p.Lys1301fs					CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs	p.K1301fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			31	3913	-			1301					A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	c.3902delA	CCDS45975.1																																																																																				0.542	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		7	527						7	527	---	---	---	---
UBA2	10054	broad.mit.edu	37	19	34921468	34921485	+	Splice_Site	DEL	TATGCATTTGTAGATTGA	TATGCATTTGTAGATTGA	-	rs146650320	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:34921468_34921485delTATGCATTTGTAGATTGA	ENST00000246548.4	+	2	208_213	c.138_143delTATGCATTTGTAGATTGA	c.(136-144)cttatgcat>ctt	p.MH47del	UBA2_ENST00000439527.2_5'UTR|CTD-2588C8.8_ENST00000592220.1_RNA	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	47					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCTGGGGTTTATGCATTTGTAGATTGATCTGGATACT	0.362																																						ENST00000246548.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.e2-1		ubiquitin-like modifier activating enzyme 2																																				SO:0001630	splice_region_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34921468_34921485delTATGCATTTGTAGATTGA	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.139-1TATGCATTTGTAGATTGA>-	19.37:g.34921468_34921485delTATGCATTTGTAGATTGA						UBA2_ENST00000439527.2_5'UTR	p.L47_splice	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		2	208_213	+	Esophageal squamous(110;0.162)		47					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Splice_Site	DEL	ENST00000246548.4	37	c.138_splice	CCDS12439.1																																																																																				0.362	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	In_Frame_Del	9	351						9	351	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	482						7	482	---	---	---	---
ZNF428	126299	broad.mit.edu	37	19	44111875	44111877	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:44111875_44111877delTCC	ENST00000300811.3	-	3	905_907	c.459_461delGGA	c.(457-462)gaggaa>gaa	p.153_154EE>E	SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	153	Glu-rich.						metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				ctcctcctcttcctcctcctcct	0.66																																						ENST00000300811.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(457-462)gaa>ga		zinc finger protein 428																																				SO:0001651	inframe_deletion	126299					intracellular	zinc ion binding	g.chr19:44111875_44111877delTCC	AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"""Zinc fingers, C2H2-type"""	20804	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 37"""	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.459_461delGGA	19.37:g.44111884_44111886delTCC	ENSP00000300811:p.Glu158del					SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	p.EE157del	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN			3	905_907	-		Prostate(69;0.0153)	157			Glu-rich.		O95054|Q6X3Y3	In_Frame_Del	DEL	ENST00000300811.3	37	c.459_461delGGA	CCDS12626.1																																																																																				0.660	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463349.1	NM_182498		7	146						7	146	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	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			10	349						10	349	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55324675	55324675	+	Intron	DEL	A	A	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:55324675delA	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Frame_Shift_Del_p.K268fs|KIR3DL1_ENST00000402254.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.M271fs*>3(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532																																						ENST00000396284.2																			1	Deletion - Frameshift(1)	p.M271fs*>3(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.(796-798)aafs		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4			,,	51,3917		3,45,1936	66.0	101.0	90.0		,,	-1.0	0.0	19	dbSNP_134	94	51,8005		2,47,3979	no	frameshift,frameshift,intron	KIR2DL4	NM_002255.5,NM_001080772.1,NM_001080770.1	,,	5,92,5915	A1A1,A1R,RR		0.6331,1.2853,0.8483	,,	,,	55324675	102,11922	2077	4226	6303	SO:0001627	intron_variant	0							g.chr19:55324675delA	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4314A>-	19.37:g.55324675delA						KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396293.1_Intron	p.K268fs						GBM - Glioblastoma multiforme(193;0.0192)	6	796	+								O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000538269.1	37	c.796delA																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		8	169						8	169	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcctcc>gcc	p.S491del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	491					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)			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)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				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.(1465-1470)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	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.chr22:38120029_38120031delCCT	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.1466_1468delCCT	22.37:g.38120032_38120034delCCT	ENSP00000384312:p.Ser491del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS489del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1721_1723	+	Melanoma(58;0.0574)		489					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1466_1468delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	565						8	565	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1.0			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.660	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		7	58						7	58	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		7	225						7	225	---	---	---	---
