#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
SCAF8	22828	broad.mit.edu	37	6	155114092	155114092	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr6:155114092G>C	ENST00000367178.3	+	5	1033	c.457G>C	c.(457-459)Gct>Cct	p.A153P	SCAF8_ENST00000367186.4_Missense_Mutation_p.A219P|SCAF8_ENST00000417268.1_Missense_Mutation_p.A153P	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	153					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CACTACCACTGCTATGAGCAA	0.378																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(457-459)Gct>Cct		SR-related CTD-associated factor 8							78.0	76.0	77.0					6																	155114092		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155114092G>C	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.457G>C	6.37:g.155114092G>C	ENSP00000356146:p.Ala153Pro					SCAF8_ENST00000417268.1_Missense_Mutation_p.A153P|SCAF8_ENST00000367186.4_Missense_Mutation_p.A219P	p.A153P	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			5	1033	+			153					B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.457G>C	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736552	0.30774	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.48522	0.81;0.81;0.82	4.56	2.63	0.31362	.	0.310569	0.29822	U	0.011108	T	0.08626	0.0214	N	0.02539	-0.55	0.40702	D	0.982499	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.08289	-1.0729	10	0.29301	T	0.29	.	6.8296	0.23902	0.1507:0.0:0.695:0.1543	.	198;219;231;153	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	P	153;153;219	ENSP00000356146:A153P;ENSP00000413098:A153P;ENSP00000356154:A219P	ENSP00000356146:A153P	A	+	1	0	SCAF8	155155784	1.000000	0.71417	0.978000	0.43139	0.676000	0.39594	3.585000	0.53943	2.241000	0.73720	0.462000	0.41574	GCT		0.378	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		5	15	0	0	0	1	0	5	15				
RLTPR	146206	broad.mit.edu	37	16	67685883	67685883	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr16:67685883C>T	ENST00000334583.6	+	26	2976	c.2648C>T	c.(2647-2649)gCa>gTa	p.A883V	RLTPR_ENST00000545661.1_Missense_Mutation_p.A847V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	883					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGCTTTGGCAGGCCTGAGT	0.587																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2647-2649)gCa>gTa		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							122.0	130.0	128.0					16																	67685883		2149	4260	6409	SO:0001583	missense	146206							g.chr16:67685883C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2648C>T	16.37:g.67685883C>T	ENSP00000334958:p.Ala883Val					RLTPR_ENST00000545661.1_Missense_Mutation_p.A847V	p.A883V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	26	2976	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	883					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2648C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410723	0.42817	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13657	2.58;2.57	4.85	-3.07	0.05363	.	0.408447	0.20898	N	0.083689	T	0.10465	0.0256	L	0.51422	1.61	0.09310	N	1	P;P	0.48764	0.915;0.915	B;B	0.42692	0.395;0.3	T	0.16808	-1.0390	10	0.45353	T	0.12	-5.5639	5.5226	0.16941	0.5979:0.225:0.0:0.1771	.	847;883	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	V	883;847	ENSP00000334958:A883V;ENSP00000441481:A847V	ENSP00000334958:A883V	A	+	2	0	RLTPR	66243384	0.023000	0.18921	0.102000	0.21198	0.644000	0.38419	-0.001000	0.12947	-0.286000	0.09076	-0.181000	0.13052	GCA		0.587	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		5	113	0	0	0	1	0	5	113				
TNPO3	23534	broad.mit.edu	37	7	128658068	128658068	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr7:128658068G>C	ENST00000265388.5	-	2	407	c.264C>G	c.(262-264)gaC>gaG	p.D88E	TNPO3_ENST00000471234.1_Missense_Mutation_p.D88E|TNPO3_ENST00000393245.1_Missense_Mutation_p.D88E|TNPO3_ENST00000482320.1_Missense_Mutation_p.D22E|TNPO3_ENST00000471166.1_Missense_Mutation_p.D88E			Q9Y5L0	TNPO3_HUMAN	transportin 3	88					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTAGCAATGAGTCCCGTAAAG	0.418																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(262-264)gaC>gaG		transportin 3							151.0	141.0	144.0					7																	128658068		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128658068G>C	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.264C>G	7.37:g.128658068G>C	ENSP00000265388:p.Asp88Glu					TNPO3_ENST00000471166.1_Missense_Mutation_p.D88E|TNPO3_ENST00000265388.5_Missense_Mutation_p.D88E|TNPO3_ENST00000471234.1_Missense_Mutation_p.D88E|TNPO3_ENST00000482320.1_Missense_Mutation_p.D22E	p.D88E	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			2	637	-			88					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.264C>G	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439601	0.43326	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.83	4.94	0.65067	Armadillo-like helical (1);Armadillo-type fold (1);	0.043072	0.85682	D	0.000000	T	0.54447	0.1859	L	0.38175	1.15	0.45930	D	0.998766	B;B;B	0.27679	0.185;0.032;0.003	B;B;B	0.28011	0.085;0.025;0.023	T	0.48758	-0.9007	10	0.14252	T	0.57	.	12.6327	0.56667	0.0803:0.0:0.9197:0.0	.	88;88;88	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	E	88;88;22;88;88	ENSP00000376936:D88E;ENSP00000265388:D88E;ENSP00000420089:D22E;ENSP00000418646:D88E;ENSP00000418267:D88E	ENSP00000265388:D88E	D	-	3	2	TNPO3	128445304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.304000	0.51866	1.467000	0.48044	0.655000	0.94253	GAC		0.418	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		4	57	0	0	0	1	0	4	57				
DNAJC19	131118	broad.mit.edu	37	3	180703757	180703757	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr3:180703757T>G	ENST00000382564.2	-	5	407	c.237A>C	c.(235-237)agA>agC	p.R79S	DNAJC19_ENST00000486355.1_3'UTR|DNAJC19_ENST00000479269.1_Missense_Mutation_p.R54S|DNAJC19_ENST00000491873.1_Missense_Mutation_p.R54S	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	79	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			GATGAGCATCTCTTATTTTCC	0.338																																						ENST00000382564.2																			0				large_intestine(2)|lung(1)	3						c.(235-237)agA>agC		DnaJ (Hsp40) homolog, subfamily C, member 19							122.0	112.0	115.0					3																	180703757		2203	4299	6502	SO:0001583	missense	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180703757T>G		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.237A>C	3.37:g.180703757T>G	ENSP00000372005:p.Arg79Ser					DNAJC19_ENST00000486355.1_3'UTR|DNAJC19_ENST00000479269.1_Missense_Mutation_p.R54S|DNAJC19_ENST00000491873.1_Missense_Mutation_p.R54S	p.R79S	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		5	407	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		79			J.		B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	c.237A>C	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038708	0.55003	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	T;T;T	0.32023	1.47;1.47;1.47	5.87	0.451	0.16629	Heat shock protein DnaJ, N-terminal (5);	0.224065	0.53938	N	0.000051	T	0.32615	0.0835	M	0.81239	2.535	0.58432	D	0.99999	B	0.06786	0.001	B	0.12837	0.008	T	0.16867	-1.0388	10	0.41790	T	0.15	-9.7318	9.7962	0.40737	0.0:0.3007:0.0:0.6993	.	79	Q96DA6	TIM14_HUMAN	S	79;54;54	ENSP00000372005:R79S;ENSP00000420767:R54S;ENSP00000419191:R54S	ENSP00000372005:R79S	R	-	3	2	DNAJC19	182186451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.226000	0.32563	0.154000	0.19237	0.528000	0.53228	AGA		0.338	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261		12	19	0	0	0	1	0	12	19				
PAX5	5079	broad.mit.edu	37	9	37006485	37006485	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr9:37006485A>G	ENST00000358127.4	-	4	534	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P	PAX5_ENST00000377847.2_Missense_Mutation_p.S154P|PAX5_ENST00000523241.1_Missense_Mutation_p.S154P|PAX5_ENST00000414447.1_Missense_Mutation_p.S154P|PAX5_ENST00000522003.1_Missense_Mutation_p.S46P|PAX5_ENST00000377853.2_Missense_Mutation_p.S154P|PAX5_ENST00000520281.1_Missense_Mutation_p.S154P|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000523145.1_Missense_Mutation_p.S46P|PAX5_ENST00000520154.1_Missense_Mutation_p.S154P|PAX5_ENST00000446742.1_Missense_Mutation_p.S88P|PAX5_ENST00000377852.2_Missense_Mutation_p.S154P	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	154					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(40)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CTGTGACTGGAAGCTGGGACT	0.378			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	40	Unknown(40)	p.?(40)	haematopoietic_and_lymphoid_tissue(40)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(460-462)Tcc>Ccc		paired box 5							179.0	175.0	177.0					9																	37006485		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37006485A>G		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.460T>C	9.37:g.37006485A>G	ENSP00000350844:p.Ser154Pro					PAX5_ENST00000377853.2_Missense_Mutation_p.S154P|PAX5_ENST00000414447.1_Missense_Mutation_p.S154P|PAX5_ENST00000522003.1_Missense_Mutation_p.S46P|PAX5_ENST00000520154.1_Missense_Mutation_p.S154P|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000520281.1_Missense_Mutation_p.S154P|PAX5_ENST00000377847.2_Missense_Mutation_p.S154P|PAX5_ENST00000446742.1_Missense_Mutation_p.S88P|PAX5_ENST00000523145.1_Missense_Mutation_p.S46P|PAX5_ENST00000523241.1_Missense_Mutation_p.S154P|PAX5_ENST00000377852.2_Missense_Mutation_p.S154P	p.S154P	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	4	534	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	154					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.460T>C	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.961010	0.34565	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D;D	0.97870	-4.09;-4.08;-4.09;-4.57;-4.58;-4.56;-3.76;-1.82;-2.41;-4.58;-4.57	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.96087	0.8725	N	0.16066	0.365	0.54753	D	0.999986	B;D;B;B;B;B;D;D;D	0.76494	0.001;0.999;0.046;0.003;0.027;0.058;0.995;0.967;0.967	B;D;B;B;B;B;P;D;D	0.68765	0.001;0.96;0.103;0.002;0.028;0.049;0.763;0.91;0.91	D	0.93330	0.6700	10	0.02654	T	1	.	15.5592	0.76229	1.0:0.0:0.0:0.0	.	154;154;88;154;154;154;154;154;154	C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;PAX5_HUMAN	P	154;46;154;154;154;154;154;88;46;46;154;154	ENSP00000350844:S154P;ENSP00000367084:S154P;ENSP00000367083:S154P;ENSP00000429637:S154P;ENSP00000429291:S154P;ENSP00000430773:S154P;ENSP00000404687:S88P;ENSP00000429359:S46P;ENSP00000429197:S46P;ENSP00000412188:S154P;ENSP00000367078:S154P	ENSP00000350844:S154P	S	-	1	0	PAX5	36996485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.981000	0.49329	2.131000	0.65755	0.528000	0.53228	TCC		0.378	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			43	50	0	0	0	1	0	43	50				
NKD2	85409	broad.mit.edu	37	5	1038080	1038080	+	Silent	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:1038080C>T	ENST00000296849.5	+	10	1177	c.948C>T	c.(946-948)gcC>gcT	p.A316A	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	316	Interaction with TGFA.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CTGCCCGGGCCCTGGACACGC	0.697																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(946-948)gcC>gcT		naked cuticle homolog 2 (Drosophila)							11.0	11.0	11.0					5																	1038080		2165	4232	6397	SO:0001819	synonymous_variant	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038080C>T	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.948C>T	5.37:g.1038080C>T						NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	p.A316A	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1177	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		316			Interaction with TGFA.		Q96EK8|Q9BSN0	Silent	SNP	ENST00000296849.5	37	c.948C>T	CCDS3859.1																																																																																				0.697	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		3	6	0	0	0	1	0	3	6				
PCDHA8	56140	broad.mit.edu	37	5	140223018	140223018	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:140223018C>G	ENST00000531613.1	+	1	2112	c.2112C>G	c.(2110-2112)atC>atG	p.I704M	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.I704M|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	704					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGCCATCTGCGCGGTAT	0.657																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(2110-2112)atC>atG									74.0	69.0	71.0					5																	140223018		2197	4265	6462	SO:0001583	missense	0							g.chr5:140223018C>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2112C>G	5.37:g.140223018C>G	ENSP00000434655:p.Ile704Met					PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.I704M	p.I704M	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2112	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.2112C>G	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950321	0.34377	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.19938	2.11;2.11	3.06	-1.09	0.09904	.	0.000000	0.37348	U	0.002132	T	0.45677	0.1354	M	0.90369	3.11	0.23739	N	0.996973	D;D	0.76494	0.998;0.999	D;D	0.72982	0.91;0.979	T	0.31724	-0.9933	10	0.87932	D	0	.	8.4438	0.32830	0.0:0.5329:0.0:0.4671	.	704;704	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	M	704	ENSP00000434655:I704M;ENSP00000367363:I704M	ENSP00000367363:I704M	I	+	3	3	PCDHA8	140203202	0.000000	0.05858	0.997000	0.53966	0.357000	0.29423	-1.854000	0.01664	-0.150000	0.11195	0.460000	0.39030	ATC		0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		11	49	0	0	0	1	0	11	49				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	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			3	31	0	0	0	1	0	3	31				
TFAP2B	7021	broad.mit.edu	37	6	50805733	50805733	+	Silent	SNP	A	A	G			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr6:50805733A>G	ENST00000393655.3	+	5	1036	c.867A>G	c.(865-867)gaA>gaG	p.E289E	TFAP2B_ENST00000263046.4_Silent_p.E298E	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	289					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAAGGCTAGAAAAAATCGGTT	0.453																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(892-894)gaA>gaG		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							91.0	97.0	95.0					6																	50805733		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50805733A>G	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.867A>G	6.37:g.50805733A>G						TFAP2B_ENST00000393655.3_Silent_p.E289E	p.E298E			Q92481	AP2B_HUMAN			6	1060	+	Lung NSC(77;0.156)		289					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.894A>G	CCDS4934.2																																																																																				0.453	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		28	69	0	0	0	1	0	28	69				
PAN3	255967	broad.mit.edu	37	13	28844930	28844930	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr13:28844930C>G	ENST00000380958.3	+	13	2037	c.1885C>G	c.(1885-1887)Cgt>Ggt	p.R629G	PAN3_ENST00000282391.5_Missense_Mutation_p.R317G|PAN3_ENST00000399613.1_Missense_Mutation_p.R429G	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTCTGCATTGCGTACCATTCA	0.428																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1285-1287)Cgt>Ggt		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							201.0	183.0	189.0					13																	28844930		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28844930C>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1885C>G	13.37:g.28844930C>G	ENSP00000370345:p.Arg629Gly					PAN3_ENST00000380958.3_Missense_Mutation_p.R629G|PAN3_ENST00000282391.5_Missense_Mutation_p.R317G	p.R429G			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	12	1348	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	629			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1285C>G	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224470	0.79576	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.46451	0.87;0.87;0.87	5.42	4.53	0.55603	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047913	0.85682	D	0.000000	T	0.65344	0.2682	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.998	T	0.69312	-0.5178	10	0.72032	D	0.01	-5.6811	13.9388	0.64041	0.2597:0.7403:0.0:0.0	.	629;629;317;575	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	G	629;429;317	ENSP00000370345:R629G;ENSP00000382522:R429G;ENSP00000282391:R317G	ENSP00000282391:R317G	R	+	1	0	PAN3	27742930	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	3.871000	0.56077	2.704000	0.92352	0.563000	0.77884	CGT		0.428	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		28	93	0	0	0	1	0	28	93				
PPP2R2B	5521	broad.mit.edu	37	5	146080671	146080671	+	Silent	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:146080671C>T	ENST00000394413.3	-	2	675	c.105G>A	c.(103-105)acG>acA	p.T35T	PPP2R2B_ENST00000394410.2_Silent_p.T24T|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Silent_p.T41T|PPP2R2B_ENST00000394409.3_Silent_p.T93T|PPP2R2B_ENST00000394411.4_Silent_p.T35T|PPP2R2B_ENST00000336640.6_Silent_p.T38T|PPP2R2B_ENST00000508545.2_Silent_p.T24T|PPP2R2B_ENST00000453001.1_Silent_p.T35T|PPP2R2B_ENST00000356826.3_Silent_p.T35T|PPP2R2B_ENST00000394414.1_Silent_p.T101T			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	35					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAATTCTCCCGTGTGGTTGA	0.423																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(103-105)acG>acA		protein phosphatase 2, regulatory subunit B, beta							268.0	278.0	275.0					5																	146080671		2203	4300	6503	SO:0001819	synonymous_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146080671C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.105G>A	5.37:g.146080671C>T						PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Silent_p.T24T|PPP2R2B_ENST00000453001.1_Silent_p.T35T|PPP2R2B_ENST00000394411.4_Silent_p.T35T|PPP2R2B_ENST00000504198.1_Silent_p.T41T|PPP2R2B_ENST00000394414.1_Silent_p.T101T|PPP2R2B_ENST00000336640.6_Silent_p.T38T|PPP2R2B_ENST00000394409.3_Silent_p.T93T|PPP2R2B_ENST00000508545.2_Silent_p.T24T|PPP2R2B_ENST00000356826.3_Silent_p.T35T	p.T35T			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	675	-			35					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.105G>A	CCDS4284.1																																																																																				0.423	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	302	0	0	0	1	0	8	302				
UBR4	23352	broad.mit.edu	37	1	19474542	19474542	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr1:19474542G>C	ENST00000375254.3	-	51	7601	c.7574C>G	c.(7573-7575)tCc>tGc	p.S2525C	UBR4_ENST00000375267.2_Missense_Mutation_p.S2525C|UBR4_ENST00000375226.2_Missense_Mutation_p.S2536C|UBR4_ENST00000375217.2_Missense_Mutation_p.S2525C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2525					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGGCTCTTGGACTGCTGCTG	0.567																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(7573-7575)tCc>tGc		ubiquitin protein ligase E3 component n-recognin 4							56.0	56.0	56.0					1																	19474542		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19474542G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7574C>G	1.37:g.19474542G>C	ENSP00000364403:p.Ser2525Cys					UBR4_ENST00000375217.2_Missense_Mutation_p.S2525C|UBR4_ENST00000375226.2_Missense_Mutation_p.S2536C|UBR4_ENST00000375254.3_Missense_Mutation_p.S2525C	p.S2525C			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	51	7577	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2525					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7574C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916428	0.73098	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.24538	1.89;1.89;1.89;1.85	5.66	5.66	0.87406	.	0.058881	0.64402	D	0.000003	T	0.20455	0.0492	N	0.14661	0.345	0.80722	D	1	B	0.28512	0.214	B	0.28011	0.085	T	0.06481	-1.0824	10	0.66056	D	0.02	.	19.7361	0.96205	0.0:0.0:1.0:0.0	.	2525	Q5T4S7	UBR4_HUMAN	C	2525;2525;2525;2536;140;1246	ENSP00000364403:S2525C;ENSP00000364416:S2525C;ENSP00000364365:S2525C;ENSP00000364374:S2536C	ENSP00000364365:S2525C	S	-	2	0	UBR4	19347129	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.476000	0.97823	2.677000	0.91161	0.305000	0.20034	TCC		0.567	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		9	34	0	0	0	1	0	9	34				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	26	0	0	0	1	0	4	26				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	47	0	0	0	1	0	3	47				
TBC1D3	729873	broad.mit.edu	37	17	36352489	36352489	+	De_novo_Start_InFrame	SNP	A	A	C	rs4796259	byFrequency	TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr17:36352489A>C	ENST00000537432.1	-	0	359				RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATAGCATCAAATATCTCATC	0.388																																						ENST00000537432.1																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5								TBC1 domain family, member 3																																						729873					intracellular	Rab GTPase activator activity	g.chr17:36352489A>C		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487		17.37:g.36352489A>C						RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C				Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	0	359	-	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)						A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Translation_Start_Site	SNP	ENST00000537432.1	37		CCDS45658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.11|16.11	3.028879|3.028879	0.54790|0.54790	.|.	.|.	ENSG00000174093|ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004|ENST00000523089	T;T;T;T|T	0.09911|0.02812	2.93;2.93;2.93;2.93|4.15	2.62|2.62	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|T	0.06826|0.06826	0.0174|0.0174	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33650|0.33650	-0.9860|-0.9860	6|6	0.87932|0.44086	D|T	0|0.13	.|.	10.5928|10.5928	0.45318|0.45318	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	rs4796259|rs4796259	.|.	.|.	.|.	C|M	278;433;433;429|388	ENSP00000444117:F278C;ENSP00000428261:F433C;ENSP00000308540:F433C;ENSP00000428330:F429C|ENSP00000427867:I388M	ENSP00000308540:F433C|ENSP00000427867:I388M	F|I	-|-	2|3	0|3	RP11-1407O15.2|RP11-1407O15.2	33606288|33606288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.708000|0.708000	0.40852|0.40852	8.882000|8.882000	0.92420|0.92420	1.196000|1.196000	0.43129|0.43129	0.163000|0.163000	0.16589|0.16589	TTT|ATT		0.388	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		3	29	0	0	0	1	0	3	29				
FGF18	8817	broad.mit.edu	37	5	170876179	170876179	+	Silent	SNP	C	C	T	rs375630229		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:170876179C>T	ENST00000274625.5	+	4	823	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	93					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGACACCTTCGGTAGTCAAG	0.517																																						ENST00000274625.5																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(277-279)ttC>ttT		fibroblast growth factor 18				0,4406		0,0,2203	109.0	91.0	97.0		279	2.4	1.0	5		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FGF18	NM_003862.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		93/208	170876179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170876179C>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.279C>T	5.37:g.170876179C>T							p.F93F	NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	823	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	93					D3DQL7|Q6UWF1	Silent	SNP	ENST00000274625.5	37	c.279C>T	CCDS4378.1																																																																																				0.517	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		5	41	0	0	0	1	0	5	41				
PAX8	7849	broad.mit.edu	37	2	114002103	114002103	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr2:114002103C>T	ENST00000429538.3	-	4	484	c.290G>A	c.(289-291)cGc>cAc	p.R97H	AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.R97H|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.R97H|PAX8_ENST00000263335.7_Missense_Mutation_p.R97H|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.R97H|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	97	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGGGTTCTGGCGTTTGTAGTC	0.587			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(289-291)cGc>cAc		paired box 8							185.0	203.0	197.0					2																	114002103		2193	4298	6491	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114002103C>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.290G>A	2.37:g.114002103C>T	ENSP00000395498:p.Arg97His					AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.R97H|PAX8_ENST00000348715.5_Missense_Mutation_p.R97H|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.R97H|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.R97H	p.R97H	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			4	484	-			97			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.290G>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410121	0.83340	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99479	-5.98;-5.98;-5.98;-5.98;-5.98	5.32	4.43	0.53597	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.053373	0.64402	D	0.000001	D	0.99357	0.9774	M	0.70787	2.145	0.80722	D	1	P;D;D;P;P	0.89917	0.879;1.0;1.0;0.923;0.744	B;P;D;B;B	0.78314	0.126;0.881;0.991;0.171;0.171	D	0.98945	1.0792	10	0.87932	D	0	.	13.7248	0.62752	0.0:0.8443:0.1557:0.0	.	97;97;97;97;97	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	H	97	ENSP00000263335:R97H;ENSP00000380768:R97H;ENSP00000314750:R97H;ENSP00000395498:R97H;ENSP00000263334:R97H	ENSP00000263334:R97H	R	-	2	0	PAX8	113718573	1.000000	0.71417	0.857000	0.33713	0.951000	0.60555	4.973000	0.63763	1.224000	0.43551	0.655000	0.94253	CGC		0.587	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			7	240	0	0	0	1	0	7	240				
CLDN16	10686	broad.mit.edu	37	3	190122701	190122701	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr3:190122701C>T	ENST00000264734.2	+	3	826	c.578C>T	c.(577-579)aCg>aTg	p.T193M	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	193					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GCTGGAGCCACGTTACTAATA	0.527																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(577-579)aCg>aTg		claudin 16							123.0	110.0	114.0					3																	190122701		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190122701C>T	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.578C>T	3.37:g.190122701C>T	ENSP00000264734:p.Thr193Met					CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	p.T193M	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	3	826	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		193						Missense_Mutation	SNP	ENST00000264734.2	37	c.578C>T	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191443	0.21954	.	.	ENSG00000113946	ENST00000264734	D	0.88818	-2.43	5.93	1.61	0.23674	.	0.568261	0.18276	N	0.146142	D	0.82793	0.5114	L	0.47716	1.5	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.66748	-0.5845	10	0.21540	T	0.41	-16.3171	10.4629	0.44590	0.0:0.5799:0.0:0.4201	.	193	Q9Y5I7	CLD16_HUMAN	M	193	ENSP00000264734:T193M	ENSP00000264734:T193M	T	+	2	0	CLDN16	191605395	0.000000	0.05858	0.054000	0.19295	0.989000	0.77384	-0.014000	0.12656	0.393000	0.25203	0.655000	0.94253	ACG		0.527	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		15	47	0	0	0	1	0	15	47				
WARS2	10352	broad.mit.edu	37	1	119575758	119575758	+	Missense_Mutation	SNP	C	C	T	rs192289549	byFrequency	TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr1:119575758C>T	ENST00000235521.4	-	6	885	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.V193M	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	287					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACTTCCTCCACGGAGAGCCCC	0.627													C|||	3	0.000599042	0.0	0.0	5008	,	,		15103	0.003		0.0	False		,,,				2504	0.0					ENST00000235521.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(859-861)Gtg>Atg		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						55.0	57.0	57.0					1																	119575758		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575758C>T	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.859G>A	1.37:g.119575758C>T	ENSP00000235521:p.Val287Met					WARS2_ENST00000537870.1_Missense_Mutation_p.V193M|WARS2_ENST00000369426.5_3'UTR	p.V287M	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	885	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	287					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.859G>A	CCDS900.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	13.31	2.200349	0.38905	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.32988	1.43;1.43	5.87	3.99	0.46301	.	0.377377	0.29861	N	0.011015	T	0.10423	0.0255	L	0.31476	0.935	0.26339	N	0.977393	P;P	0.42039	0.64;0.769	B;B	0.40199	0.322;0.322	T	0.04767	-1.0928	10	0.42905	T	0.14	-11.397	9.7379	0.40399	0.0:0.7496:0.0:0.2504	.	230;287	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	M	287;193	ENSP00000235521:V287M;ENSP00000438807:V193M	ENSP00000235521:V287M	V	-	1	0	WARS2	119377281	0.768000	0.28519	0.876000	0.34364	0.018000	0.09664	1.433000	0.34947	1.500000	0.48636	0.655000	0.94253	GTG		0.627	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		6	84	0	0	0	1	0	6	84				
CHEK2P2	646096	broad.mit.edu	37	15	20496765	20496765	+	RNA	SNP	G	G	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr15:20496765G>T	ENST00000555186.1	+	0	818					NR_038836.1				checkpoint kinase 2 pseudogene 2																		GTTTTTTATAGTGTGTATTTT	0.358																																						ENST00000555186.1																			0																																																			0							g.chr15:20496765G>T			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496765G>T								NR_038836.1						0	818	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.358	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		5	21	1	0	1.23904e-05	1	1.28034e-05	5	21				
GABRA6	2559	broad.mit.edu	37	5	161119058	161119058	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:161119058T>G	ENST00000274545.5	+	8	1371	c.938T>G	c.(937-939)tTc>tGc	p.F313C	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.F303C			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	313					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTTTGCATTCGTCTTCTCT	0.478										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(907-909)tTc>tGc		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						175.0	145.0	155.0					5																	161119058		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119058T>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.938T>G	5.37:g.161119058T>G	ENSP00000274545:p.Phe313Cys	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.F313C	p.F303C	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1150	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	313					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.908T>G	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428661	0.83667	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.86769	-2.17;-2.17	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.135781	0.64402	D	0.000004	D	0.95446	0.8521	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96797	0.9586	10	0.87932	D	0	.	15.2799	0.73773	0.0:0.0:0.0:1.0	.	313	Q16445	GBRA6_HUMAN	C	313;303	ENSP00000274545:F313C;ENSP00000430527:F303C	ENSP00000274545:F313C	F	+	2	0	GABRA6	161051636	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	7.946000	0.87746	1.997000	0.58415	0.528000	0.53228	TTC		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			4	90	0	0	0	1	0	4	90				
IFT88	8100	broad.mit.edu	37	13	21245111	21245111	+	Splice_Site	SNP	G	G	A			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr13:21245111G>A	ENST00000319980.6	+	26	2529		c.e26-1		IFT88_ENST00000351808.5_Splice_Site|IFT88_ENST00000382778.4_Splice_Site|IFT88_ENST00000537103.1_Splice_Site	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88						anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CTTTGCTCTAGCGCATAAAGT	0.393																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.e26-1		intraflagellar transport 88 homolog (Chlamydomonas)							77.0	77.0	77.0					13																	21245111		2203	4300	6503	SO:0001630	splice_region_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21245111G>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2203-1G>A	13.37:g.21245111G>A						IFT88_ENST00000351808.5_Splice_Site|IFT88_ENST00000319980.6_Splice_Site|IFT88_ENST00000537103.1_Splice_Site				Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	26	3444	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)						A2A491|B4DUS2|Q5SZJ6|Q8N719	Splice_Site	SNP	ENST00000319980.6	37		CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922768	0.73213	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5927	0.88001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT88	20143111	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.516000	0.73755	2.534000	0.85438	0.561000	0.74099	.		0.393	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531	Intron	4	17	0	0	0	1	0	4	17				
PNRC1	10957	broad.mit.edu	37	6	89790855	89790855	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr6:89790855G>A	ENST00000336032.3	+	1	359	c.242G>A	c.(241-243)cGc>cAc	p.R81H	PNRC1_ENST00000354922.3_5'Flank|PNRC1_ENST00000369472.1_Intron|RP11-63L7.5_ENST00000606729.1_RNA	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CTGCCCAACCGCAGCCTCGCC	0.716										Multiple Myeloma(7;0.094)																												ENST00000336032.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(241-243)cGc>cAc		proline-rich nuclear receptor coactivator 1							9.0	11.0	10.0					6																	89790855		2169	4268	6437	SO:0001583	missense	10957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:89790855G>A	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.242G>A	6.37:g.89790855G>A	ENSP00000336931:p.Arg81His	Multiple Myeloma(7;0.094)				PNRC1_ENST00000369472.1_Intron	p.R81H	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.102)	1	359	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	81					B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	37	c.242G>A	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	G	8.578	0.881714	0.17467	.	.	ENSG00000146278	ENST00000336032	T	0.44083	0.93	4.83	3.97	0.46021	.	0.557160	0.18801	N	0.130798	T	0.11410	0.0278	N	0.08118	0	0.41904	D	0.990439	B;P	0.44044	0.379;0.825	B;B	0.37780	0.121;0.258	T	0.04767	-1.0928	10	0.46703	T	0.11	0.2998	11.5239	0.50569	0.083:0.0:0.917:0.0	.	81;81	Q12796;Q7Z5N0	PNRC1_HUMAN;.	H	81	ENSP00000336931:R81H	ENSP00000336931:R81H	R	+	2	0	PNRC1	89847574	1.000000	0.71417	0.044000	0.18714	0.024000	0.10985	3.624000	0.54231	1.265000	0.44215	-0.266000	0.10368	CGC		0.716	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		5	7	0	0	0	1	0	5	7				
ZAN	7455	broad.mit.edu	37	7	100350298	100350298	+	RNA	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr7:100350298C>T	ENST00000348028.3	+	0	2735				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.498																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							269.0	312.0	298.0					7																	100350298		1882	4119	6001			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350298C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350298C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2718	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	11.71	1.720754	0.30503	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62232	0.04;0.04;0.04	3.97	0.987	0.19790	.	0.553938	0.13699	N	0.368999	T	0.53158	0.1779	L	0.33485	1.01	0.09310	N	0.999996	P;B	0.44734	0.842;0.201	P;B	0.47645	0.553;0.148	T	0.44345	-0.9334	10	0.62326	D	0.03	.	5.9038	0.18982	0.0:0.6494:0.1584:0.1922	.	857;857	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	857	ENSP00000445943:P857L;ENSP00000445091:P857L;ENSP00000444427:P857L	ENSP00000423579:P857L	P	+	2	0	ZAN	100188234	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.014000	0.12656	0.065000	0.16485	-0.192000	0.12808	CCC		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	121	0	0	0	1	0	4	121				
HS6ST1	9394	broad.mit.edu	37	2	129026005	129026005	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr2:129026005G>A	ENST00000259241.6	-	2	980	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	323			R -> Q (in HH15; approximately 30% reduction in enzymatic activity compared to wild-type when heparan sulfate is the acceptor substrate). {ECO:0000269|PubMed:21700882}.		angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCGCCCGCCCGCGTGCTATTG	0.597																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(967-969)Cgg>Tgg		heparan sulfate 6-O-sulfotransferase 1							40.0	43.0	42.0					2																	129026005		2139	4242	6381	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026005G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.967C>T	2.37:g.129026005G>A	ENSP00000259241:p.Arg323Trp						p.R323W	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	980	-	Colorectal(110;0.1)		323					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.967C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305940	0.40795	.	.	ENSG00000136720	ENST00000259241	T	0.75704	-0.96	4.78	0.319	0.15873	.	0.000000	0.85682	D	0.000000	D	0.85435	0.5696	M	0.82323	2.585	0.45914	D	0.998751	D	0.89917	1.0	D	0.87578	0.998	D	0.86823	0.2006	9	.	.	.	-0.7289	15.6599	0.77178	0.0:0.0:0.4898:0.5102	.	323	O60243	H6ST1_HUMAN	W	323	ENSP00000259241:R323W	.	R	-	1	2	HS6ST1	128742475	0.984000	0.35163	0.445000	0.26908	0.471000	0.32888	1.780000	0.38634	0.417000	0.25871	-0.475000	0.04921	CGG		0.597	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		8	22	0	0	0	1	0	8	22				
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T	rs368809647		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	86	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(301-303)ggC>ggT		keratin associated protein 9-9							78.0	83.0	81.0					17																	39411940		2203	4297	6500	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411940C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.303C>T	17.37:g.39411940C>T							p.G101G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	305	+		Breast(137;0.000496)	101					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.303C>T	CCDS54127.1																																																																																				0.617	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		4	81	0	0	0	1	0	4	81				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	46	1	0	0.00307968	1	0.00307968	7	46				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	8	0	0	0	1	0	4	8				
MUC16	94025	broad.mit.edu	37	19	9088094	9088094	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr19:9088094T>A	ENST00000397910.4	-	1	3924	c.3721A>T	c.(3721-3723)Acc>Tcc	p.T1241S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1241	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGGGTAGGTGCTGAGGGTT	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3721-3723)Acc>Tcc		mucin 16, cell surface associated							366.0	359.0	361.0					19																	9088094		2115	4243	6358	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088094T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3721A>T	19.37:g.9088094T>A	ENSP00000381008:p.Thr1241Ser						p.T1241S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3924	-			1241			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3721A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.659	0.122429	0.08931	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	1.38	-0.928	0.10448	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	P	0.39424	0.673	B	0.28916	0.096	T	0.46414	-0.9193	8	0.87932	D	0	.	4.2245	0.10574	0.0:0.4872:0.0:0.5128	.	1241	B5ME49	.	S	1241	ENSP00000381008:T1241S	ENSP00000381008:T1241S	T	-	1	0	MUC16	8949094	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.329000	0.02677	-0.377000	0.07930	0.254000	0.18369	ACC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	277	0	0	0	1	0	5	277				
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		57	Substitution - Missense(57)	p.S34F(45)|p.S34Y(12)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(100-102)tCt>tTt		U2 small nuclear RNA auxiliary factor 1		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR	p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN			2	193	-			34					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		8	24	0	0	0	1	0	8	24				
PARP16	54956	broad.mit.edu	37	15	65551824	65551824	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr15:65551824A>T	ENST00000444347.2	-	4	961	c.545T>A	c.(544-546)cTg>cAg	p.L182Q	PARP16_ENST00000261888.6_Missense_Mutation_p.L298Q			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	297	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CAGCAGATACAGGGATATCAT	0.473																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(892-894)cTg>cAg		poly (ADP-ribose) polymerase family, member 16							112.0	110.0	111.0					15																	65551824		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65551824A>T	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.545T>A	15.37:g.65551824A>T	ENSP00000396118:p.Leu182Gln					PARP16_ENST00000444347.2_Missense_Mutation_p.L182Q	p.L298Q	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			6	1338	-			297			Poly-Leu.		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37	c.893T>A		.	.	.	.	.	.	.	.	.	.	A	20.6	4.017865	0.75161	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.50277	0.75;0.76	5.86	4.74	0.60224	.	0.132951	0.52532	D	0.000077	T	0.54382	0.1855	L	0.34521	1.04	0.80722	D	1	D;B;D	0.89917	1.0;0.441;1.0	D;B;D	0.72075	0.976;0.421;0.946	T	0.54669	-0.8259	10	0.51188	T	0.08	-6.9072	10.6302	0.45532	0.9257:0.0:0.0743:0.0	.	298;182;297	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	Q	298;182	ENSP00000261888:L298Q;ENSP00000396118:L182Q	ENSP00000261888:L298Q	L	-	2	0	PARP16	63338877	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	6.879000	0.75572	2.241000	0.73720	0.533000	0.62120	CTG		0.473	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		6	56	0	0	0	1	0	6	56				
ADAM23	8745	broad.mit.edu	37	2	207436508	207436508	+	Missense_Mutation	SNP	G	G	A	rs377327401		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr2:207436508G>A	ENST00000264377.3	+	17	1952	c.1624G>A	c.(1624-1626)Gac>Aac	p.D542N	ADAM23_ENST00000374416.1_Missense_Mutation_p.D542N|ADAM23_ENST00000374415.3_Missense_Mutation_p.D542N	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	542	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCACTGCAGCGACGGGCCCTG	0.443																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1624-1626)Gac>Aac		ADAM metallopeptidase domain 23		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	129.0	122.0	124.0		1624	6.2	0.9	2		124	0,8600		0,0,4300	no	missense	ADAM23	NM_003812.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	542/833	207436508	1,13005	2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207436508G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1624G>A	2.37:g.207436508G>A	ENSP00000264377:p.Asp542Asn					ADAM23_ENST00000374416.1_Missense_Mutation_p.D542N|ADAM23_ENST00000374415.3_Missense_Mutation_p.D542N	p.D542N	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	17	1952	+			542			Disintegrin.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1624G>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283364	0.59867	2.27E-4	0.0	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.10860	2.83;2.83;2.83	6.16	6.16	0.99307	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.64402	D	0.000004	T	0.07593	0.0191	N	0.11427	0.14	0.80722	D	1	B	0.32128	0.357	B	0.28385	0.089	T	0.44772	-0.9306	10	0.27082	T	0.32	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	542	O75077	ADA23_HUMAN	N	542;542;436;542	ENSP00000264377:D542N;ENSP00000363537:D542N;ENSP00000363536:D542N	ENSP00000264377:D542N	D	+	1	0	ADAM23	207144753	1.000000	0.71417	0.934000	0.37439	0.579000	0.36224	5.286000	0.65639	2.937000	0.99478	0.650000	0.86243	GAC		0.443	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		11	24	0	0	0	1	0	11	24				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	26	0	0	0	1	0	5	26				
AHNAK	79026	broad.mit.edu	37	11	62295522	62295522	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr11:62295522C>T	ENST00000378024.4	-	5	6641	c.6367G>A	c.(6367-6369)Gac>Aac	p.D2123N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2123					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGTAAGTCCACATCAGGC	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6367-6369)Gac>Aac		AHNAK nucleoprotein							193.0	207.0	202.0					11																	62295522		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295522C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6367G>A	11.37:g.62295522C>T	ENSP00000367263:p.Asp2123Asn					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D2123N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6641	-		Melanoma(852;0.155)	2123					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6367G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	4.001	-0.002512	0.07819	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.02085	4.46	3.51	1.57	0.23409	.	.	.	.	.	T	0.05593	0.0147	M	0.89478	3.035	0.19300	N	0.999978	B	0.13145	0.007	B	0.13407	0.009	T	0.15867	-1.0422	9	0.51188	T	0.08	.	8.8801	0.35370	0.0:0.8095:0.0:0.1905	.	2123	Q09666	AHNK_HUMAN	N	212;2123	ENSP00000367263:D2123N	ENSP00000244934:D212N	D	-	1	0	AHNAK	62052098	0.581000	0.26741	0.001000	0.08648	0.182000	0.23217	2.365000	0.44196	0.124000	0.18369	0.298000	0.19748	GAC		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	272	0	0	0	1	0	6	272				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	47	1	0	0.00024832	1	0.000252391	4	47				
ZNF710	374655	broad.mit.edu	37	15	90610702	90610702	+	Silent	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr15:90610702C>T	ENST00000268154.4	+	2	584	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGGTCAAGTTCGAGAAGGTGG	0.657																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(331-333)ttC>ttT		zinc finger protein 710							73.0	68.0	69.0					15																	90610702		2200	4297	6497	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90610702C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.333C>T	15.37:g.90610702C>T							p.F111F	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	584	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		111					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.333C>T	CCDS10358.1																																																																																				0.657	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		3	14	0	0	0	1	0	3	14				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	27	0	0	0	1	0	4	27				
PCDHGA7	56108	broad.mit.edu	37	5	140764756	140764756	+	Missense_Mutation	SNP	C	C	T	rs368141492		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:140764756C>T	ENST00000518325.1	+	1	2290	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	764					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGACTCTCGGAAGAGTCA	0.542													.|||	1	0.000199681	0.0	0.0	5008	,	,		19059	0.0		0.001	False		,,,				2504	0.0					ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(2290-2292)Cgg>Tgg									96.0	104.0	101.0					5																	140764756		2203	4300	6503	SO:0001583	missense	0							g.chr5:140764756C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2290C>T	5.37:g.140764756C>T	ENSP00000430024:p.Arg764Trp					PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R764W	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2290	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.2290C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	7.624	0.677435	0.14841	.	.	ENSG00000253537	ENST00000518325	T	0.51574	0.7	4.73	-2.84	0.05751	.	.	.	.	.	T	0.55417	0.1919	M	0.91196	3.185	0.09310	N	1	B;D	0.55605	0.364;0.972	B;P	0.47744	0.082;0.556	T	0.53380	-0.8447	9	0.87932	D	0	.	4.658	0.12628	0.3347:0.2713:0.3274:0.0666	.	764;764	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	W	764	ENSP00000430024:R764W	ENSP00000430024:R764W	R	+	1	2	PCDHGA7	140744940	0.000000	0.05858	0.002000	0.10522	0.145000	0.21501	-0.548000	0.06048	-0.429000	0.07329	-0.302000	0.09304	CGG		0.542	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		30	100	0	0	0	1	0	30	100				
FAM86A	196483	broad.mit.edu	37	16	5139146	5139146	+	Missense_Mutation	SNP	C	C	T	rs147678499	byFrequency	TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr16:5139146C>T	ENST00000427587.4	-	7	922	c.854G>A	c.(853-855)cGc>cAc	p.R285H	FAM86A_ENST00000458008.4_Missense_Mutation_p.R251H|FAM86A_ENST00000587133.1_Missense_Mutation_p.R224H	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	285						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CTCTGGGTTGCGGACGGTAAA	0.677													c|||	11	0.00219649	0.0083	0.0	5008	,	,		16179	0.0		0.0	False		,,,				2504	0.0					ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(853-855)cGc>cAc		family with sequence similarity 86, member A		T	HIS/ARG,HIS/ARG	18,2992		0,18,1487	95.0	112.0	106.0		854,752	3.1	0.9	16	dbSNP_134	106	0,5412		0,0,2706	no	missense,missense	FAM86A	NM_201400.2,NM_201598.2	29,29	0,18,4193	TT,TC,CC		0.0,0.598,0.2137	benign,benign	285/331,251/297	5139146	18,8404	1505	2706	4211	SO:0001583	missense	196483							g.chr16:5139146C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.854G>A	16.37:g.5139146C>T	ENSP00000398502:p.Arg285His					FAM86A_ENST00000458008.4_Missense_Mutation_p.R251H|FAM86A_ENST00000587133.1_Missense_Mutation_p.R224H	p.R285H	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			7	922	-			285					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.854G>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	c	14.14	2.445111	0.43429	0.00598	0.0	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.14022	2.54;2.54	4.05	3.1	0.35709	.	2.545180	0.01315	U	0.010754	T	0.33089	0.0851	H	0.94462	3.54	0.58432	D	0.999994	P;D	0.54964	0.931;0.969	P;P	0.50109	0.497;0.631	T	0.39860	-0.9593	10	0.62326	D	0.03	.	9.4547	0.38747	0.0:0.8972:0.0:0.1028	.	251;285	Q96G04-2;Q96G04	.;FA86A_HUMAN	H	251;285	ENSP00000389710:R251H;ENSP00000398502:R285H	ENSP00000398502:R285H	R	-	2	0	FAM86A	5079147	1.000000	0.71417	0.948000	0.38648	0.006000	0.05464	5.711000	0.68400	1.057000	0.40506	-0.405000	0.06341	CGC		0.677	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		5	99	0	0	0	1	0	5	99				
TGIF2LY	90655	broad.mit.edu	37	Y	3447294	3447294	+	Silent	SNP	C	C	G			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chrY:3447294C>G	ENST00000559055.2	+	1	139	c.9C>G	c.(7-9)gcC>gcG	p.A3A	TGIF2LY_ENST00000321217.4_Silent_p.A3A			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|upper_aerodigestive_tract(1)	2						ATATGGAGGCCGCTGCAGACG	0.507																																						ENST00000559055.2																			0				kidney(1)|upper_aerodigestive_tract(1)	2						c.(7-9)gcC>gcG		TGFB-induced factor homeobox 2-like, Y-linked																																				SO:0001819	synonymous_variant	90655					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrY:3447294C>G	AF332223	CCDS14775.1	Yp11.2	2011-06-20	2007-02-07		ENSG00000176679	ENSG00000176679		"""Homeoboxes / TALE class"""	18569	protein-coding gene	gene with protein product		400025	"""TGFB-induced factor 2-like, Y-linked"""				Standard	NM_139214		Approved		uc004fqk.3	Q8IUE0	OTTHUMG00000036153	ENST00000559055.2:c.9C>G	Y.37:g.3447294C>G						TGIF2LY_ENST00000321217.4_Silent_p.A3A	p.A3A			Q8IUE0	TF2LY_HUMAN			1	139	+			3					A2VCU1	Silent	SNP	ENST00000559055.2	37	c.9C>G	CCDS14775.1																																																																																				0.507	TGIF2LY-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417915.2	NM_139214		4	10	0	0	0	1	0	4	10				
DTX3L	151636	broad.mit.edu	37	3	122287807	122287807	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr3:122287807C>T	ENST00000296161.4	+	3	1060	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	291					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGAAGCAGCTCGTGAGTCTTT	0.403																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(871-873)Cgt>Tgt		deltex 3-like (Drosophila)							45.0	47.0	46.0					3																	122287807		2202	4298	6500	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122287807C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.871C>T	3.37:g.122287807C>T	ENSP00000296161:p.Arg291Cys					DTX3L_ENST00000383661.3_Intron	p.R291C	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1060	+			291					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.871C>T	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848065	0.51164	.	.	ENSG00000163840	ENST00000296161	T	0.30448	1.53	5.52	0.599	0.17519	.	1.691690	0.03115	N	0.163054	T	0.20495	0.0493	N	0.25647	0.755	0.09310	N	1	B	0.17852	0.024	B	0.04013	0.001	T	0.15350	-1.0440	10	0.38643	T	0.18	-21.1681	1.983	0.03430	0.3939:0.3305:0.1277:0.1479	.	291	Q8TDB6	DTX3L_HUMAN	C	291	ENSP00000296161:R291C	ENSP00000296161:R291C	R	+	1	0	DTX3L	123770497	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	-0.146000	0.10250	-0.073000	0.12842	0.563000	0.77884	CGT		0.403	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		21	43	0	0	0	1	0	21	43				
KIAA0430	9665	broad.mit.edu	37	16	15705570	15705570	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr16:15705570G>A	ENST00000396368.3	-	18	3702	c.3496C>T	c.(3496-3498)Cgt>Tgt	p.R1166C	KIAA0430_ENST00000551742.1_Missense_Mutation_p.R1166C|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R1001C|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R1163C|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R1163C|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R768C	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1166	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTCAGCAGACGTTTGGAGCCC	0.478																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(3496-3498)Cgt>Tgt		KIAA0430							77.0	76.0	76.0					16																	15705570		1902	4119	6021	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15705570G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3496C>T	16.37:g.15705570G>A	ENSP00000379654:p.Arg1166Cys					KIAA0430_ENST00000551742.1_Missense_Mutation_p.R1166C|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R1163C|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R1001C|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R1163C|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R768C	p.R1166C	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			18	3702	-			1165					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.3496C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699807	0.88924	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.82	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.79351	-0.1839	9	0.87932	D	0	.	14.4832	0.67597	0.0:0.0:0.7331:0.2669	.	1165;1163;1162;1165	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	C	1166;1001;1106;768;1163;1166;946	.	ENSP00000315718:R1106C	R	-	1	0	KIAA0430	15613071	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	4.700000	0.61803	1.463000	0.47967	0.643000	0.83706	CGT		0.478	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		15	44	0	0	0	1	0	15	44				
PICK1	9463	broad.mit.edu	37	22	38468599	38468599	+	Silent	SNP	T	T	A			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr22:38468599T>A	ENST00000404072.3	+	9	1019	c.672T>A	c.(670-672)ctT>ctA	p.L224L	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Silent_p.L224L	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	224	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCATTCGGCTTCTGAAAACCA	0.597																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(670-672)ctT>ctA		protein interacting with PRKCA 1							78.0	78.0	78.0					22																	38468599		2203	4300	6503	SO:0001819	synonymous_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38468599T>A	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.672T>A	22.37:g.38468599T>A						PICK1_ENST00000356976.3_Silent_p.L224L|RP5-1039K5.13_ENST00000445483.1_RNA	p.L224L	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			9	1019	+	Melanoma(58;0.045)		224			AH.		B3KS52|O95906	Silent	SNP	ENST00000404072.3	37	c.672T>A	CCDS13965.1																																																																																				0.597	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		30	84	0	0	0	1	0	30	84				
RSPH10B2	728194	broad.mit.edu	37	7	6797531	6797531	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr7:6797531G>C	ENST00000403107.1	+	2	610	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	RSPH10B2_ENST00000297186.3_Missense_Mutation_p.E75Q|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.E75Q|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.E75Q			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	75										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						CCAATACGAAGAGTCCATTCT	0.468																																						ENST00000403107.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						c.(223-225)Gag>Cag		radial spoke head 10 homolog B2 (Chlamydomonas)							184.0	203.0	197.0					7																	6797531		2169	4271	6440	SO:0001583	missense	728194							g.chr7:6797531G>C		CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.223G>C	7.37:g.6797531G>C	ENSP00000384766:p.Glu75Gln					RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.E75Q|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.E75Q|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.E75Q	p.E75Q							2	610	+								A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000403107.1	37	c.223G>C	CCDS43552.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814212	0.50527	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	2.65	2.65	0.31530	.	0.173433	0.38111	N	0.001813	T	0.63757	0.2538	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.61800	0.894	T	0.65471	-0.6160	10	0.46703	T	0.11	.	11.0959	0.48143	0.0:0.0:1.0:0.0	.	75	B2RC85	R10B2_HUMAN	Q	75	ENSP00000384766:E75Q;ENSP00000386102:E75Q;ENSP00000297186:E75Q;ENSP00000416710:E75Q	ENSP00000297186:E75Q	E	+	1	0	RSPH10B2	6764056	1.000000	0.71417	0.987000	0.45799	0.612000	0.37316	4.909000	0.63314	1.494000	0.48533	0.392000	0.25879	GAG		0.468	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		44	209	0	0	0	1	0	44	209				
HSPA2	3306	broad.mit.edu	37	14	65008203	65008203	+	Silent	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr14:65008203C>T	ENST00000394709.1	+	2	712	c.636C>T	c.(634-636)atC>atT	p.I212I	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000247207.6_Silent_p.I212I|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	212					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACGTGTCCATCCTGACCATCG	0.652																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(634-636)atC>atT		heat shock 70kDa protein 2							88.0	93.0	92.0					14																	65008203		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008203C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.636C>T	14.37:g.65008203C>T						HSPA2_ENST00000394709.1_Silent_p.I212I|HSPA2_ENST00000554883.1_3'UTR	p.I212I	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	1018	+			212					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.636C>T	CCDS9766.1																																																																																				0.652	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			4	63	0	0	0	1	0	4	63				
PRKCZ	5590	broad.mit.edu	37	1	2077532	2077532	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr1:2077532G>C	ENST00000400921.2	+	4	753	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	PRKCZ_ENST00000400920.1_Missense_Mutation_p.E24Q|RP5-892K4.1_ENST00000606533.1_RNA|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	207	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CCTTCCTTCCGAGGAGACAGA	0.582																																						ENST00000400921.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18						c.(70-72)Gag>Cag		protein kinase C, zeta							94.0	71.0	79.0					1																	2077532		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2077532G>C	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.70G>C	1.37:g.2077532G>C	ENSP00000383712:p.Glu24Gln					PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.E24Q	p.E24Q	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	4	753	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	207			OPR.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.70G>C	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154440	0.38021	.	.	ENSG00000067606	ENST00000378567;ENST00000468310;ENST00000400921;ENST00000461106;ENST00000470596;ENST00000496325;ENST00000482686;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000471018;ENST00000466352;ENST00000497183	T;D;T;T;T;T;T;T;T	0.88975	-0.34;-2.45;-0.25;-0.36;1.38;-0.25;0.22;0.81;0.82	5.04	5.04	0.67666	.	0.056301	0.64402	D	0.000002	T	0.80065	0.4555	N	0.08118	0	0.80722	D	1	P;P;B	0.44877	0.768;0.845;0.317	B;B;B	0.42692	0.395;0.317;0.091	T	0.79543	-0.1760	10	0.18710	T	0.47	.	17.3593	0.87345	0.0:0.0:1.0:0.0	.	103;31;207	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	Q	207;177;24;103;24;24;24;24;20;24;24;24;24;20	ENSP00000367830:E207Q;ENSP00000424945:E177Q;ENSP00000383712:E24Q;ENSP00000426412:E103Q;ENSP00000424228:E24Q;ENSP00000383711:E24Q;ENSP00000424763:E20Q;ENSP00000421219:E24Q;ENSP00000422764:E20Q	ENSP00000367830:E207Q	E	+	1	0	PRKCZ	2067392	1.000000	0.71417	0.871000	0.34182	0.884000	0.51177	8.484000	0.90445	2.348000	0.79779	0.462000	0.41574	GAG		0.582	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		5	27	0	0	0	1	0	5	27				
TAF1L	138474	broad.mit.edu	37	9	32632973	32632973	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr9:32632973C>T	ENST00000242310.4	-	1	2694	c.2605G>A	c.(2605-2607)Gct>Act	p.A869T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	869					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.A869T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGAAGTCAGCGCAGAGCTTT	0.463																																						ENST00000242310.4																			1	Substitution - Missense(1)	p.A869T(1)	prostate(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2605-2607)Gct>Act		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							137.0	139.0	138.0					9																	32632973		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632973C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2605G>A	9.37:g.32632973C>T	ENSP00000418379:p.Ala869Thr						p.A869T	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2694	-			869					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2605G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987904	0.53934	.	.	ENSG00000122728	ENST00000242310	T	0.15487	2.42	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.82630	2.6	0.53005	D	0.999969	D	0.89917	1.0	D	0.83275	0.996	T	0.22521	-1.0214	10	0.72032	D	0.01	.	7.8312	0.29344	0.0:1.0:0.0:0.0	.	869	Q8IZX4	TAF1L_HUMAN	T	869	ENSP00000418379:A869T	ENSP00000418379:A869T	A	-	1	0	TAF1L	32622973	1.000000	0.71417	0.991000	0.47740	0.694000	0.40290	4.928000	0.63447	0.632000	0.30432	0.195000	0.17529	GCT		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	152	0	0	0	1	0	4	152				
ZNF727	442319	broad.mit.edu	37	7	63538401	63538401	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr7:63538401C>T	ENST00000550760.3	+	4	1153	c.974C>T	c.(973-975)tCg>tTg	p.S325L	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	325					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.S325L(1)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ATGTGGATCTCGGCCCTTAGT	0.403																																						ENST00000550760.3																			1	Substitution - Missense(1)	p.S325L(1)	skin(1)	endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						c.(973-975)tCg>tTg		zinc finger protein 727							39.0	38.0	38.0					7																	63538401		692	1591	2283	SO:0001583	missense	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63538401C>T			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.974C>T	7.37:g.63538401C>T	ENSP00000447987:p.Ser325Leu						p.S325L	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN			4	1153	+			325						Missense_Mutation	SNP	ENST00000550760.3	37	c.974C>T	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408896	0.25378	.	.	ENSG00000257482	ENST00000550760	T	0.01705	4.68	1.02	1.02	0.19986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	M	0.67700	2.07	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.29610	-1.0006	8	.	.	.	.	4.9157	0.13844	0.0:0.6078:0.3922:0.0	.	325	A8MUV8	ZN727_HUMAN	L	325	ENSP00000447987:S325L	.	S	+	2	0	ZNF727	63175836	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.488000	0.06497	0.436000	0.26393	0.436000	0.28706	TCG		0.403	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522		10	11	0	0	0	1	0	10	11				
NRXN3	9369	broad.mit.edu	37	14	80271468	80271468	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr14:80271468A>C	ENST00000557594.1	+	5	1876	c.923A>C	c.(922-924)gAt>gCt	p.D308A	NRXN3_ENST00000335750.5_Missense_Mutation_p.D940A|NRXN3_ENST00000428277.2_Missense_Mutation_p.D338A|NRXN3_ENST00000554719.1_Missense_Mutation_p.D940A|NRXN3_ENST00000281127.7_Missense_Mutation_p.D308A|NRXN3_ENST00000556003.1_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	308					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACATCAGATGATCTTGTTTCA	0.388																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(922-924)gAt>gCt		neurexin 3							228.0	202.0	211.0					14																	80271468		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80271468A>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.923A>C	14.37:g.80271468A>C	ENSP00000451672:p.Asp308Ala					NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.D308A|NRXN3_ENST00000428277.2_Missense_Mutation_p.D338A|NRXN3_ENST00000335750.5_Missense_Mutation_p.D940A|NRXN3_ENST00000554719.1_Missense_Mutation_p.D940A	p.D308A	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1802	+		Renal(4;0.00876)	308					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.923A>C		.	.	.	.	.	.	.	.	.	.	A	15.71	2.914404	0.52546	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.67698	-0.28;-0.28;1.34;1.46;1.25	5.41	5.41	0.78517	.	0.057521	0.64402	D	0.000003	T	0.59418	0.2192	N	0.14661	0.345	0.58432	D	0.999999	P;P;B;B	0.47350	0.894;0.575;0.124;0.001	P;B;B;B	0.50570	0.644;0.406;0.045;0.001	T	0.59220	-0.7495	9	.	.	.	.	15.4541	0.75299	1.0:0.0:0.0:0.0	.	338;308;308;940	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	A	1313;1332;940;940;308;308;338	ENSP00000451648:D940A;ENSP00000338349:D940A;ENSP00000451672:D308A;ENSP00000281127:D308A;ENSP00000394426:D338A	.	D	+	2	0	NRXN3	79341221	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.720000	0.91442	2.048000	0.60808	0.528000	0.53228	GAT		0.388	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		33	65	0	0	0	1	0	33	65				
CDH16	1014	broad.mit.edu	37	16	66946227	66946227	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr16:66946227G>A	ENST00000299752.4	-	12	1659	c.1466C>T	c.(1465-1467)gCc>gTc	p.A489V	CDH16_ENST00000568632.1_Missense_Mutation_p.A392V|CDH16_ENST00000570262.1_Missense_Mutation_p.A409V|CDH16_ENST00000565796.1_Missense_Mutation_p.A489V|CDH16_ENST00000394055.3_Missense_Mutation_p.A489V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTCTCAATGGCAAAATCCAT	0.577																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1465-1467)gCc>gTc		cadherin 16, KSP-cadherin							98.0	92.0	94.0					16																	66946227		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946227G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1466C>T	16.37:g.66946227G>A	ENSP00000299752:p.Ala489Val					CDH16_ENST00000568632.1_Missense_Mutation_p.A392V|CDH16_ENST00000570262.1_Missense_Mutation_p.A409V|CDH16_ENST00000565796.1_Missense_Mutation_p.A489V|CDH16_ENST00000394055.3_Missense_Mutation_p.A489V	p.A489V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	12	1659	-		Ovarian(137;0.0563)	489			Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1466C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430181	0.25726	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53857	0.6;0.6	4.69	4.69	0.59074	Cadherin (4);Cadherin-like (1);	0.506506	0.21528	N	0.073093	T	0.48607	0.1509	L	0.53249	1.67	0.38726	D	0.953552	P;P;P	0.46859	0.617;0.885;0.72	B;B;B	0.42625	0.178;0.393;0.342	T	0.50474	-0.8824	10	0.27785	T	0.31	-10.2196	12.9978	0.58657	0.0:0.0:1.0:0.0	.	489;489;489	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	V	489;489;453	ENSP00000377619:A489V;ENSP00000299752:A489V	ENSP00000299752:A489V	A	-	2	0	CDH16	65503728	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.617000	0.46385	2.457000	0.83068	0.462000	0.41574	GCC		0.577	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		3	58	0	0	0	1	0	3	58				
FAM43B	163933	broad.mit.edu	37	1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744																																						ENST00000332947.4																			0				large_intestine(1)|lung(2)	3						c.(802-804)del		family with sequence similarity 43, member B				121,39,3262		29,0,63,5,29,1585						-0.4	1.0			5	4,54,6868		0,0,4,2,50,3407	no	codingComplex	FAM43B	NM_207334.2		29,0,67,7,79,4992	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8374,4.6756,2.1067				125,93,10130				SO:0001651	inframe_deletion	163933							g.chr1:20880268_20880270delGAG	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.802_804delGAG	1.37:g.20880277_20880279delGAG	ENSP00000331397:p.Glu272del						p.E272del	NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	1337_1339	+		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	272					A5PKT8|A5PL01	In_Frame_Del	DEL	ENST00000332947.4	37	c.802_804delGAG	CCDS209.1																																																																																				0.744	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1	NM_207334		3	3						3	3	---	---	---	---
RP11-93K22.13	0	broad.mit.edu	37	3	129811873	129811878	+	lincRNA	DEL	AAAAAA	AAAAAA	-	rs561529908|rs71158104	byFrequency	TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr3:129811873_129811878delAAAAAA	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							agtctgtcagaaaaaaaaaaaaaaaa	0.383																																						ENST00000514010.1																			0																																																			0							g.chr3:129811873_129811878delAAAAAA																													3.37:g.129811879_129811884delAAAAAA						ALG1L2_ENST00000507643.1_RNA								0	157	-									RNA	DEL	ENST00000514010.1	37																																																																																						0.383	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			4	5						4	5	---	---	---	---
LMOD2	442721	broad.mit.edu	37	7	123302916	123302918	+	In_Frame_Del	DEL	CCT	CCT	-	rs546552479		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr7:123302916_123302918delCCT	ENST00000458573.2	+	2	1433_1435	c.1276_1278delCCT	c.(1276-1278)cctdel	p.P433del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	433	Pro-rich.					cytoskeleton (GO:0005856)											tcctcctccccctcctcctcctc	0.591																																						ENST00000458573.2																			0											c.(1276-1278)del		leiomodin 2 (cardiac)																																				SO:0001651	inframe_deletion	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302916_123302918delCCT	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1276_1278delCCT	7.37:g.123302925_123302927delCCT	ENSP00000411932:p.Pro433del					LMOD2_ENST00000456238.2_Intron	p.P433del	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	1433_1435	+			433			Pro-rich.		A4D0W9|A4D0Y2|Q8WVJ8	In_Frame_Del	DEL	ENST00000458573.2	37	c.1276_1278delCCT	CCDS47693.1																																																																																				0.591	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			3	5						3	5	---	---	---	---
