#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
FAM86DP	692099	broad.mit.edu	37	3	75475670	75475670	+	RNA	SNP	A	A	C	rs7430363	byFrequency	TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:75475670A>C	ENST00000459803.1	-	0	859					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		ACCTCAGGAGACTGCTGGTGC	0.627													.|||	2317	0.46266	0.7315	0.4092	5008	,	,		13562	0.4812		0.2555	False		,,,				2504	0.3313					ENST00000459803.1																			0																																																			692099							g.chr3:75475670A>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475670A>C								NR_024241.1						0	859	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.627	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	40	0	0	0	1	0	4	40				
SPRY2	10253	broad.mit.edu	37	13	80911680	80911680	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr13:80911680T>A	ENST00000377102.1	-	2	1138	c.161A>T	c.(160-162)gAg>gTg	p.E54V	SPRY2_ENST00000540649.1_Missense_Mutation_p.E54V|SPRY2_ENST00000377104.3_Missense_Mutation_p.E54V			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	54					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CTCTGTGTACTCATTGGTGTT	0.607																																						ENST00000377102.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12						c.(160-162)gAg>gTg		sprouty homolog 2 (Drosophila)							104.0	102.0	103.0					13																	80911680		2203	4300	6503	SO:0001583	missense	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911680T>A	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.161A>T	13.37:g.80911680T>A	ENSP00000366306:p.Glu54Val					SPRY2_ENST00000377104.3_Missense_Mutation_p.E54V|SPRY2_ENST00000540649.1_Missense_Mutation_p.E54V	p.E54V			O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1138	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	54					B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	c.161A>T	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.786308	0.70337	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.60920	0.15;0.15;0.15	5.44	5.44	0.79542	.	0.051151	0.85682	D	0.000000	T	0.74619	0.3740	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.78476	-0.2189	10	0.87932	D	0	.	15.5761	0.76387	0.0:0.0:0.0:1.0	.	54	O43597	SPY2_HUMAN	V	54	ENSP00000366308:E54V;ENSP00000366306:E54V;ENSP00000439027:E54V	ENSP00000366306:E54V	E	-	2	0	SPRY2	79809681	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.693000	0.84214	2.081000	0.62600	0.529000	0.55759	GAG		0.607	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			21	85	0	0	0	1	0	21	85				
THUMPD3	25917	broad.mit.edu	37	3	9425959	9425959	+	Silent	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:9425959C>T	ENST00000345094.3	+	9	1633	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	SETD5-AS1_ENST00000520629.1_RNA|THUMPD3_ENST00000515662.2_Silent_p.V433V|SETD5-AS1_ENST00000468186.1_RNA|SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000519043.1_RNA|THUMPD3_ENST00000452837.2_Silent_p.V433V	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	433						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TGAGCCGTGTCTGCACACCTA	0.463																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1297-1299)gtC>gtT		THUMP domain containing 3							195.0	201.0	199.0					3																	9425959		2203	4300	6503	SO:0001819	synonymous_variant	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9425959C>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1299C>T	3.37:g.9425959C>T						THUMPD3_ENST00000452837.2_Silent_p.V433V|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Silent_p.V433V	p.V433V	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	9	1633	+	Medulloblastoma(99;0.227)		433					Q9H8V6|Q9NVC1|Q9UFS3	Silent	SNP	ENST00000345094.3	37	c.1299C>T	CCDS2573.1																																																																																				0.463	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		46	169	0	0	0	1	0	46	169				
TMIE	259236	broad.mit.edu	37	3	46750655	46750655	+	Missense_Mutation	SNP	G	G	A	rs397517866		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:46750655G>A	ENST00000326431.3	+	3	406	c.251G>A	c.(250-252)cGg>cAg	p.R84Q		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	84			R -> W (in DFNB6; dbSNP:rs28942097). {ECO:0000269|PubMed:12145746}.		inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CGTGTGCCACGGACCCGGAAG	0.577																																						ENST00000326431.3																			0				endometrium(1)|lung(1)|skin(1)	3						c.(250-252)cGg>cAg		transmembrane inner ear							78.0	87.0	84.0					3																	46750655		2122	4227	6349	SO:0001583	missense	259236					integral to membrane		g.chr3:46750655G>A	AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"""deafness, autosomal recessive 6"""	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.251G>A	3.37:g.46750655G>A	ENSP00000324775:p.Arg84Gln						p.R84Q	NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	3	406	+			84		R -> W (in DFNB6; dbSNP:rs28942097).			A0AV93|A8K0R0	Missense_Mutation	SNP	ENST00000326431.3	37	c.251G>A	CCDS43081.1	.	.	.	.	.	.	.	.	.	.	G	36	5.760287	0.96898	.	.	ENSG00000181585	ENST00000326431	D	0.86865	-2.18	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.92698	0.7679	M	0.66297	2.02	0.53005	D	0.999965	D	0.71674	0.998	D	0.75484	0.986	D	0.93148	0.6547	10	0.87932	D	0	-23.5327	17.1469	0.86768	0.0:0.0:1.0:0.0	.	84	Q8NEW7	TMIE_HUMAN	Q	84	ENSP00000324775:R84Q	ENSP00000324775:R84Q	R	+	2	0	TMIE	46725659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.910000	0.75741	2.642000	0.89623	0.563000	0.77884	CGG		0.577	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313853.1	NM_147196		10	41	0	0	0	1	0	10	41				
SYNM	23336	broad.mit.edu	37	15	99673256	99673256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:99673256G>A	ENST00000560674.1	+	5	3366	c.2897G>A	c.(2896-2898)tGg>tAg	p.W966*	SYNM_ENST00000328642.7_Nonsense_Mutation_p.W1251*|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Nonsense_Mutation_p.W1563*			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1564	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GATGGGCATTGGTTTTAATAA	0.443																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4687-4689)tGg>tAg		synemin, intermediate filament protein							39.0	37.0	38.0					15																	99673256		1869	4113	5982	SO:0001587	stop_gained	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99673256G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2897G>A	15.37:g.99673256G>A	ENSP00000453040:p.Trp966*					SYNM_ENST00000328642.7_Nonsense_Mutation_p.W1251*|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Nonsense_Mutation_p.W966*	p.W1563*	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4808	+			1564			Interaction with DMD and UTRN.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000560674.1	37	c.4688G>A		.	.	.	.	.	.	.	.	.	.	G	42	9.815936	0.99271	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.28101	N	0.931417	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8805	0.70528	0.0:0.1429:0.8571:0.0	.	.	.	.	X	1563;1251	.	ENSP00000330469:W1251X	W	+	2	0	SYNM	97490779	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	3.044000	0.49830	2.814000	0.96858	0.655000	0.94253	TGG		0.443	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		4	26	0	0	0	1	0	4	26				
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A	rs62035609		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	27						integral component of membrane (GO:0016021)		p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577																																						ENST00000524087.1																			24	Substitution - coding silent(24)	p.H27H(24)	endometrium(22)|kidney(2)								c.(79-81)caC>caT		nuclear pore complex interacting protein family, member B11																																				SO:0001819	synonymous_variant	728888							g.chr16:29415043G>A			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.81C>T	16.37:g.29415043G>A						SNX29P2_ENST00000398878.3_lincRNA	p.H27H							2	155	-									Silent	SNP	ENST00000524087.1	37	c.81C>T																																																																																					0.577	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430		3	17	0	0	0	1	0	3	17				
MYEF2	50804	broad.mit.edu	37	15	48451810	48451810	+	Splice_Site	SNP	A	A	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:48451810A>G	ENST00000324324.7	-	6	996	c.717T>C	c.(715-717)aaT>aaC	p.N239N	MYEF2_ENST00000267836.6_Splice_Site_p.N239N|MYEF2_ENST00000557868.1_5'Flank|AC066612.1_ENST00000583682.1_RNA	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	239	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTGAACTTACATTGGCAACAA	0.318																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e6+1		myelin expression factor 2							97.0	93.0	94.0					15																	48451810		2198	4297	6495	SO:0001630	splice_region_variant	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48451810A>G	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.717+1T>C	15.37:g.48451810A>G						MYEF2_ENST00000267836.6_Splice_Site_p.N239_splice	p.N239_splice	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	6	996	-		all_lung(180;0.00217)	239			RRM 2.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Splice_Site	SNP	ENST00000324324.7	37	c.717_splice	CCDS32230.1																																																																																				0.318	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132	Silent	8	63	0	0	0	1	0	8	63				
RALYL	138046	broad.mit.edu	37	8	85774569	85774569	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr8:85774569G>A	ENST00000521268.1	+	6	1557	c.452G>A	c.(451-453)cGt>cAt	p.R151H	RALYL_ENST00000521376.1_Missense_Mutation_p.R62H|RALYL_ENST00000522455.1_Missense_Mutation_p.R151H|RALYL_ENST00000521695.1_Missense_Mutation_p.R151H|RALYL_ENST00000523850.1_Missense_Mutation_p.R78H|RALYL_ENST00000518566.1_Missense_Mutation_p.R140H|RALYL_ENST00000517638.1_Missense_Mutation_p.R164H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCACCTCCCCGTGCAGTAATT	0.498																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(451-453)cGt>cAt		RALY RNA binding protein-like							56.0	56.0	56.0					8																	85774569		1903	4127	6030	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774569G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.452G>A	8.37:g.85774569G>A	ENSP00000430367:p.Arg151His					RALYL_ENST00000521376.1_Missense_Mutation_p.R62H|RALYL_ENST00000518566.1_Missense_Mutation_p.R140H|RALYL_ENST00000523850.1_Missense_Mutation_p.R78H|RALYL_ENST00000517638.1_Missense_Mutation_p.R164H|RALYL_ENST00000521695.1_Missense_Mutation_p.R151H|RALYL_ENST00000522455.1_Missense_Mutation_p.R151H	p.R151H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			6	1557	+			151					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.452G>A	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000863	0.74818	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.23348	2.63;2.63;2.63;2.56;2.62;2.15;1.91	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.75264	2.295	0.43250	D	0.99517	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.899;0.994;0.998;0.993;0.994	T	0.53718	-0.8399	10	0.51188	T	0.08	-3.6618	19.1979	0.93696	0.0:0.0:1.0:0.0	.	140;151;78;164;151	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	H	151;151;151;140;164;78;62	ENSP00000430394:R151H;ENSP00000428667:R151H;ENSP00000430367:R151H;ENSP00000430065:R140H;ENSP00000430128:R164H;ENSP00000428807:R78H;ENSP00000428310:R62H	ENSP00000430128:R164H	R	+	2	0	RALYL	85937124	1.000000	0.71417	0.646000	0.29493	0.433000	0.31745	7.074000	0.76791	2.599000	0.87857	0.551000	0.68910	CGT		0.498	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			5	20	0	0	0	1	0	5	20				
ZNF496	84838	broad.mit.edu	37	1	247492824	247492824	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:247492824C>G	ENST00000294753.4	-	3	521	c.57G>C	c.(55-57)agG>agC	p.R19S	ZNF496_ENST00000366498.2_Missense_Mutation_p.R19S	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	19					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TCCTCATTTTCCTGGGCTCCT	0.622																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(55-57)agG>agC		zinc finger protein 496							58.0	70.0	66.0					1																	247492824		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492824C>G	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.57G>C	1.37:g.247492824C>G	ENSP00000294753:p.Arg19Ser					ZNF496_ENST00000366498.2_Missense_Mutation_p.R19S	p.R19S	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	521	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		19					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.57G>C	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176611	0.38413	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.06768	3.28;3.26	4.11	3.11	0.35812	.	.	.	.	.	T	0.10252	0.0251	N	0.08118	0	0.31268	N	0.692093	D;D	0.69078	0.989;0.997	D;P	0.75020	0.985;0.746	T	0.12372	-1.0550	8	.	.	.	.	8.5649	0.33534	0.2296:0.7704:0.0:0.0	.	19;19	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	S	19	ENSP00000294753:R19S;ENSP00000355454:R19S	.	R	-	3	2	ZNF496	245559447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.247000	0.32815	2.290000	0.77057	0.561000	0.74099	AGG		0.622	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		18	93	0	0	0	1	0	18	93				
ALX1	8092	broad.mit.edu	37	12	85674264	85674264	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:85674264C>T	ENST00000316824.3	+	1	380	c.225C>T	c.(223-225)agC>agT	p.S75S		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	75					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AGGACAGCAGCGGTGAGTCGC	0.647																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.e1+1		ALX homeobox 1							16.0	18.0	17.0					12																	85674264		2201	4299	6500	SO:0001630	splice_region_variant	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85674264C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.226+1C>T	12.37:g.85674264C>T							p.S75_splice	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	1	380	+			75					Q546C8|Q96FH4	Splice_Site	SNP	ENST00000316824.3	37	c.226_splice	CCDS9028.1																																																																																				0.647	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982	Silent	4	33	0	0	0	1	0	4	33				
PHF11	51131	broad.mit.edu	37	13	50092163	50092163	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr13:50092163T>C	ENST00000378319.3	+	4	375	c.334T>C	c.(334-336)Ttt>Ctt	p.F112L	PHF11_ENST00000357596.3_Missense_Mutation_p.F73L|PHF11_ENST00000488958.1_Missense_Mutation_p.F73L	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		GAAATGCAAATTTTGTCATAA	0.333																																						ENST00000357596.3																			0				large_intestine(3)|lung(1)	4						c.(217-219)Ttt>Ctt		PHD finger protein 11							57.0	60.0	59.0					13																	50092163		2203	4300	6503	SO:0001583	missense	51131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr13:50092163T>C	AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.334T>C	13.37:g.50092163T>C	ENSP00000367570:p.Phe112Leu					PHF11_ENST00000378319.3_Missense_Mutation_p.F112L|PHF11_ENST00000488958.1_Missense_Mutation_p.F73L	p.F73L	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)	5	493	+		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	112					Q5W0A4|Q5W0A6|Q9Y5A2	Missense_Mutation	SNP	ENST00000378319.3	37	c.217T>C	CCDS31975.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354829	0.24512	.	.	ENSG00000136147	ENST00000378319;ENST00000496612;ENST00000357596;ENST00000485919;ENST00000442195;ENST00000488958	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	4.2	-2.93	0.05598	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.882556	0.09489	N	0.795243	T	0.49218	0.1544	L	0.33485	1.01	0.09310	N	1	B;B	0.29909	0.261;0.135	B;B	0.33295	0.161;0.084	T	0.38824	-0.9643	10	0.31617	T	0.26	0.0159	4.4641	0.11680	0.1481:0.3562:0.0:0.4956	.	112;112	B4DTX8;Q9UIL8	.;PHF11_HUMAN	L	112;44;73;73;73;73	ENSP00000367570:F112L;ENSP00000419229:F44L;ENSP00000350209:F73L;ENSP00000420129:F73L;ENSP00000405227:F73L;ENSP00000417539:F73L	ENSP00000350209:F73L	F	+	1	0	PHF11	48990164	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.026000	0.12392	-0.620000	0.05641	-0.899000	0.02877	TTT		0.333	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119		7	27	0	0	0	1	0	7	27				
FUS	2521	broad.mit.edu	37	16	31195651	31195651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:31195651C>T	ENST00000254108.7	+	5	562	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	FUS_ENST00000380244.3_Nonsense_Mutation_p.Q152*|FUS_ENST00000568685.1_Nonsense_Mutation_p.Q153*|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	153	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q153*(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TAATCCCCCTCAGGGCTATGG	0.562			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	1	Substitution - Nonsense(1)	p.Q153*(1)	urinary_tract(1)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(457-459)Cag>Tag		fused in sarcoma							99.0	86.0	91.0					16																	31195651		2197	4300	6497	SO:0001587	stop_gained	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31195651C>T	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.457C>T	16.37:g.31195651C>T	ENSP00000254108:p.Gln153*					FUS_ENST00000568685.1_Nonsense_Mutation_p.Q153*|FUS_ENST00000380244.3_Nonsense_Mutation_p.Q152*	p.Q153*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	5	562	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	153			Gln/Gly/Ser/Tyr-rich.		Q9H4A8	Nonsense_Mutation	SNP	ENST00000254108.7	37	c.457C>T	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302441	0.95601	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	.	.	.	5.81	5.81	0.92471	.	0.344593	0.27402	N	0.019523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-4.0605	18.8627	0.92280	0.0:1.0:0.0:0.0	.	.	.	.	X	153	.	ENSP00000254108:Q153X	Q	+	1	0	FUS	31103152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.607000	0.61133	2.746000	0.94184	0.591000	0.81541	CAG		0.562	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		9	96	0	0	0	1	0	9	96				
GPBP1L1	60313	broad.mit.edu	37	1	46120921	46120921	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:46120921C>T	ENST00000290795.3	-	4	1352	c.131G>A	c.(130-132)cGc>cAc	p.R44H	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.R44H			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	44					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ATGTCGACGGCGGCTTACTCC	0.458																																						ENST00000355105.3																		GPBP1L1/MAST2_ENST00000361297(2)	0				breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21						c.(130-132)cGc>cAc		GC-rich promoter binding protein 1-like 1							141.0	140.0	140.0					1																	46120921		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46120921C>T		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.131G>A	1.37:g.46120921C>T	ENSP00000290795:p.Arg44His					GPBP1L1_ENST00000290795.3_Missense_Mutation_p.R44H	p.R44H	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN			5	1491	-	Acute lymphoblastic leukemia(166;0.155)		44					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.131G>A	CCDS528.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233288	0.79688	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.47869	0.83;0.83	6.04	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.58428	1.81	0.54753	D	0.999987	B	0.15473	0.013	B	0.08055	0.003	T	0.42832	-0.9428	10	0.56958	D	0.05	-10.7281	15.5397	0.76031	0.0:0.9339:0.0:0.0661	.	44	Q9HC44	GPBL1_HUMAN	H	44	ENSP00000290795:R44H;ENSP00000347224:R44H	ENSP00000290795:R44H	R	-	2	0	GPBP1L1	45893508	1.000000	0.71417	0.980000	0.43619	0.977000	0.68977	7.179000	0.77665	1.568000	0.49683	0.563000	0.77884	CGC		0.458	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		13	134	0	0	0	1	0	13	134				
IMPG1	3617	broad.mit.edu	37	6	76640701	76640701	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:76640701C>G	ENST00000369950.3	-	15	2401	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	Y_RNA_ENST00000363170.1_RNA|IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGGAGGACCTCGCATTCCTTT	0.547																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2212-2214)Gag>Cag		interphotoreceptor matrix proteoglycan 1							124.0	111.0	116.0					6																	76640701		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76640701C>G	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2212G>C	6.37:g.76640701C>G	ENSP00000358966:p.Glu738Gln					IMPG1_ENST00000369963.3_3'UTR	p.E738Q	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			15	2401	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	738						Missense_Mutation	SNP	ENST00000369950.3	37	c.2212G>C	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491169	0.44249	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.24538	1.85;2.06	5.45	2.69	0.31865	.	0.441061	0.20655	N	0.088129	T	0.11537	0.0281	L	0.49778	1.585	0.39298	D	0.964853	P	0.48589	0.912	B	0.42462	0.388	T	0.03493	-1.1031	10	0.46703	T	0.11	.	7.7962	0.29148	0.0:0.7386:0.1387:0.1227	.	738	Q17R60	IMPG1_HUMAN	Q	738;99	ENSP00000358966:E738Q;ENSP00000358968:E99Q	ENSP00000358966:E738Q	E	-	1	0	IMPG1	76697421	0.168000	0.22989	0.000000	0.03702	0.001000	0.01503	1.112000	0.31172	0.284000	0.22305	-0.514000	0.04452	GAG		0.547	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		13	57	0	0	0	1	0	13	57				
CCDC86	79080	broad.mit.edu	37	11	60610106	60610106	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr11:60610106C>T	ENST00000227520.5	+	1	563	c.509C>T	c.(508-510)cCc>cTc	p.P170L	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	170	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CAGCAAGCTCCCGGTCCGGAG	0.682																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(508-510)cCc>cTc		coiled-coil domain containing 86							21.0	26.0	24.0					11																	60610106		2203	4296	6499	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60610106C>T	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.509C>T	11.37:g.60610106C>T	ENSP00000227520:p.Pro170Leu					RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	p.P170L	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			1	563	+			170			Pro-rich.		B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.509C>T	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353612	0.24512	.	.	ENSG00000110104	ENST00000227520	T	0.59224	0.28	3.77	1.84	0.25277	.	0.675602	0.13729	N	0.366835	T	0.38983	0.1061	L	0.33485	1.01	0.09310	N	0.999998	B	0.11235	0.004	B	0.12156	0.007	T	0.19745	-1.0296	10	0.29301	T	0.29	-5.6201	2.5576	0.04764	0.1919:0.5136:0.1867:0.1078	.	170	Q9H6F5	CCD86_HUMAN	L	170	ENSP00000227520:P170L	ENSP00000227520:P170L	P	+	2	0	CCDC86	60366682	0.009000	0.17119	0.010000	0.14722	0.017000	0.09413	0.866000	0.27954	0.364000	0.24374	-0.305000	0.09177	CCC		0.682	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		10	39	0	0	0	1	0	10	39				
MYCBP2	23077	broad.mit.edu	37	13	77748593	77748593	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr13:77748593T>A	ENST00000544440.2	-	37	5407	c.5390A>T	c.(5389-5391)aAc>aTc	p.N1797I	MYCBP2_ENST00000407578.2_Missense_Mutation_p.N1835I|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N1797I|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTCCATAGTTCCTCAAGCG	0.403																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5503-5505)aAc>aTc		MYC binding protein 2, E3 ubiquitin protein ligase							156.0	132.0	140.0					13																	77748593		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77748593T>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5390A>T	13.37:g.77748593T>A	ENSP00000444596:p.Asn1797Ile					MYCBP2_ENST00000357337.6_Missense_Mutation_p.N1797I|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N1797I	p.N1835I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	37	5770	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1797						Missense_Mutation	SNP	ENST00000544440.2	37	c.5504A>T		.	.	.	.	.	.	.	.	.	.	T	26.4	4.737526	0.89482	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29655	1.56;1.56;1.56	5.45	5.45	0.79879	PHR (1);	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	L	0.35288	1.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40553	-0.9557	10	0.54805	T	0.06	.	15.8028	0.78468	0.0:0.0:0.0:1.0	.	1797	O75592	MYCB2_HUMAN	I	1797;1835;1797	ENSP00000349892:N1797I;ENSP00000384288:N1835I;ENSP00000444596:N1797I	ENSP00000349892:N1797I	N	-	2	0	MYCBP2	76646594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.196000	0.70406	0.460000	0.39030	AAC		0.403	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		8	43	0	0	0	1	0	8	43				
CUL9	23113	broad.mit.edu	37	6	43172776	43172776	+	Missense_Mutation	SNP	C	C	T	rs139277408		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:43172776C>T	ENST00000252050.4	+	23	4639	c.4555C>T	c.(4555-4557)Cgg>Tgg	p.R1519W	CUL9_ENST00000354495.3_Missense_Mutation_p.R1409W|CUL9_ENST00000372647.2_Missense_Mutation_p.R1519W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1519					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTTTGGGCCTCGGGCAGCCTT	0.602																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4555-4557)Cgg>Tgg		cullin 9		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	71.0	69.0		4555	3.2	1.0	6	dbSNP_134	69	0,8600		0,0,4300	no	missense	CUL9	NM_015089.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1519/2518	43172776	1,13005	2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43172776C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4555C>T	6.37:g.43172776C>T	ENSP00000252050:p.Arg1519Trp					CUL9_ENST00000372647.2_Missense_Mutation_p.R1519W|CUL9_ENST00000354495.3_Missense_Mutation_p.R1409W	p.R1519W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			23	4639	+			1519					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4555C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488161	0.84854	2.27E-4	0.0	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74842	-0.88;-0.88;-0.88	5.07	3.23	0.37069	Cullin, N-terminal (1);	0.220938	0.40728	N	0.001025	T	0.74458	0.3719	L	0.50333	1.59	0.43368	D	0.995455	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.997;0.997	T	0.77256	-0.2655	10	0.87932	D	0	-25.0563	9.1616	0.37025	0.1471:0.7766:0.0:0.0764	.	1409;1519;1519	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	W	1519;1409;1519	ENSP00000252050:R1519W;ENSP00000346490:R1409W;ENSP00000361730:R1519W	ENSP00000252050:R1519W	R	+	1	2	CUL9	43280754	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	4.627000	0.61276	1.105000	0.41606	0.462000	0.41574	CGG		0.602	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		13	82	0	0	0	1	0	13	82				
PPAT	5471	broad.mit.edu	37	4	57265456	57265456	+	Silent	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr4:57265456T>C	ENST00000264220.2	-	9	1262	c.1125A>G	c.(1123-1125)gtA>gtG	p.V375V	PPAT_ENST00000507648.1_5'Flank|RP11-646I6.6_ENST00000602749.1_lincRNA	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	375					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TGTCTGACAATACTCCAAATT	0.373																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1123-1125)gtA>gtG		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						129.0	127.0	128.0					4																	57265456		2203	4298	6501	SO:0001819	synonymous_variant	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57265456T>C		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1125A>G	4.37:g.57265456T>C							p.V375V	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			9	1262	-	Glioma(25;0.08)|all_neural(26;0.101)		375						Silent	SNP	ENST00000264220.2	37	c.1125A>G	CCDS3505.1																																																																																				0.373	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		11	92	0	0	0	1	0	11	92				
MRPL37	51253	broad.mit.edu	37	1	54675803	54675803	+	Splice_Site	SNP	A	A	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:54675803A>G	ENST00000360840.5	+	4	908	c.831A>G	c.(829-831)acA>acG	p.T277T	MRPL37_ENST00000605337.1_Splice_Site_p.T277T|MRPL37_ENST00000336230.6_Splice_Site_p.T146T|MRPL37_ENST00000487096.1_3'UTR	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	277					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						AAAATGACACAGGTAAGGATC	0.403																																						ENST00000605337.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						c.e4+1		mitochondrial ribosomal protein L37							118.0	108.0	112.0					1																	54675803		2203	4300	6503	SO:0001630	splice_region_variant	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54675803A>G	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.832+1A>G	1.37:g.54675803A>G						MRPL37_ENST00000360840.5_Splice_Site_p.T277_splice|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Splice_Site_p.T146_splice	p.T277_splice			Q9BZE1	RM37_HUMAN			4	879	+			277					Q96Q67|Q9BWR1|Q9P0P3	Splice_Site	SNP	ENST00000360840.5	37	c.832_splice	CCDS589.1	.	.	.	.	.	.	.	.	.	.	A	7.724	0.697788	0.15106	.	.	ENSG00000116221	ENST00000398219	.	.	.	5.69	3.38	0.38709	.	.	.	.	.	T	0.59582	0.2204	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53344	-0.8452	4	.	.	.	-7.9795	9.9736	0.41770	0.863:0.0:0.137:0.0	.	.	.	.	R	62	.	.	Q	+	2	0	MRPL37	54448391	0.999000	0.42202	0.995000	0.50966	0.019000	0.09904	0.856000	0.27818	0.437000	0.26423	0.533000	0.62120	CAG		0.403	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491	Silent	38	60	0	0	0	1	0	38	60				
TMC5	79838	broad.mit.edu	37	16	19468230	19468230	+	Intron	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:19468230C>T	ENST00000396229.2	+	6	1797				TMC5_ENST00000542583.2_Intron|TMC5_ENST00000219821.5_Nonsense_Mutation_p.Q68*|TMC5_ENST00000561503.1_Intron|TMC5_ENST00000564959.1_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000541464.1_Intron	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAAGGGTAACCAGGTGCTGCG	0.443																																						ENST00000219821.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(202-204)Cag>Tag		transmembrane channel-like 5							123.0	109.0	114.0					16																	19468230		2197	4300	6497	SO:0001627	intron_variant	79838					integral to membrane		g.chr16:19468230C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1049-3327C>T	16.37:g.19468230C>T						TMC5_ENST00000561503.1_Intron|TMC5_ENST00000564959.1_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000381414.4_Intron	p.Q68*	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN			1	459	+			0					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Nonsense_Mutation	SNP	ENST00000396229.2	37	c.202C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639057	0.87760	.	.	ENSG00000103534	ENST00000219821	.	.	.	4.07	0.993	0.19825	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7522	0.08570	0.1908:0.6033:0.0:0.2059	.	.	.	.	X	68	.	ENSP00000219821:Q68X	Q	+	1	0	TMC5	19375731	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.160000	0.10041	0.270000	0.21984	-0.137000	0.14449	CAG		0.443	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		10	53	0	0	0	1	0	10	53				
RGS7BP	401190	broad.mit.edu	37	5	63871726	63871726	+	Missense_Mutation	SNP	G	G	A	rs151111266		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr5:63871726G>A	ENST00000334025.2	+	3	784	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	RGS7BP_ENST00000508162.1_3'UTR|RNU6-294P_ENST00000364999.1_RNA	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	153					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CAGTTTCATCGAAAAGGTATC	0.398																																						ENST00000334025.2																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11						c.(457-459)cGa>cAa		regulator of G-protein signaling 7 binding protein		G	GLN/ARG	0,4406		0,0,2203	110.0	111.0	110.0		458	5.9	1.0	5	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	RGS7BP	NM_001029875.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	153/258	63871726	1,13005	2203	4300	6503	SO:0001583	missense	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63871726G>A	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.458G>A	5.37:g.63871726G>A	ENSP00000334851:p.Arg153Gln					RGS7BP_ENST00000508162.1_3'UTR	p.R153Q	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	3	784	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	153					B7Z3X1	Missense_Mutation	SNP	ENST00000334025.2	37	c.458G>A	CCDS34170.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469824	0.84533	0.0	1.16E-4	ENSG00000186479	ENST00000334025	T	0.33865	1.39	5.91	5.91	0.95273	.	0.052621	0.85682	D	0.000000	T	0.42585	0.1209	N	0.19112	0.55	0.58432	D	0.999996	D	0.67145	0.996	P	0.56788	0.806	T	0.17379	-1.0371	10	0.38643	T	0.18	0.902	20.2985	0.98592	0.0:0.0:1.0:0.0	.	153	Q6MZT1	R7BP_HUMAN	Q	153	ENSP00000334851:R153Q	ENSP00000334851:R153Q	R	+	2	0	RGS7BP	63907482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.613000	0.67688	2.793000	0.96121	0.655000	0.94253	CGA		0.398	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		16	59	0	0	0	1	0	16	59				
CXCL10	3627	broad.mit.edu	37	4	76943519	76943519	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr4:76943519C>T	ENST00000306602.1	-	3	343	c.278G>A	c.(277-279)aGg>aAg	p.R93K	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	93				R -> M (in Ref. 1; CAA26370). {ECO:0000305}.	blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCAAACCTACCTTTCCTTGCT	0.418																																						ENST00000306602.1																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.e3+1		chemokine (C-X-C motif) ligand 10							133.0	123.0	126.0					4																	76943519		1911	4127	6038	SO:0001630	splice_region_variant	3627				blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity	g.chr4:76943519C>T	X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"""Endogenous ligands"""	10637	protein-coding gene	gene with protein product		147310	"""small inducible cytokine subfamily B (Cys-X-Cys), member 10"""	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.278+1G>A	4.37:g.76943519C>T						ART3_ENST00000341029.5_Intron	p.R93_splice	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	343	-			93	R -> M (in Ref. 1; CAA26370).				Q96QJ5	Splice_Site	SNP	ENST00000306602.1	37	c.278_splice	CCDS43240.1	.	.	.	.	.	.	.	.	.	.	C	8.127	0.782223	0.16189	.	.	ENSG00000169245	ENST00000306602	T	0.21031	2.03	4.98	3.23	0.37069	Chemokine interleukin-8-like domain (1);	0.214099	0.39407	N	0.001369	T	0.11707	0.0285	.	.	.	0.31242	N	0.695061	B	0.13145	0.007	B	0.12156	0.007	T	0.15636	-1.0430	8	.	.	.	.	6.4783	0.22049	0.1782:0.7299:0.0:0.0919	.	93	P02778	CXL10_HUMAN	K	93	ENSP00000305651:R93K	.	R	-	2	0	CXCL10	77162543	1.000000	0.71417	0.991000	0.47740	0.002000	0.02628	2.211000	0.42825	0.786000	0.33708	-0.182000	0.12963	AGG		0.418	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362817.1		Missense_Mutation	11	63	0	0	0	1	0	11	63				
PPFIA2	8499	broad.mit.edu	37	12	81762901	81762901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:81762901C>A	ENST00000549396.1	-	12	1499	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E373*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.E14*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E429*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E294*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E348*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E429*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E447*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	447	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTTGAAGTTCTTGATTCTTC	0.343																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1339-1341)Gaa>Taa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							105.0	98.0	100.0					12																	81762901		1815	4073	5888	SO:0001587	stop_gained	8499							g.chr12:81762901C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1339G>T	12.37:g.81762901C>A	ENSP00000450337:p.Glu447*					PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E429*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E294*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E373*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.E14*|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E429*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E348*	p.E447*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			11	1634	-			373					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.1339G>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171145	0.94807	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.0775	19.0977	0.93260	0.0:1.0:0.0:0.0	.	.	.	.	X	447;429;14;373;458;429;447;348;447;28;14	.	ENSP00000327416:E429X	E	-	1	0	PPFIA2	80287032	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.585000	0.87301	0.563000	0.77884	GAA		0.343	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			4	14	1	0	0.00909568	1	0.00929781	4	14				
INTS8	55656	broad.mit.edu	37	8	95862176	95862176	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr8:95862176A>G	ENST00000523731.1	+	12	1497	c.1364A>G	c.(1363-1365)tAt>tGt	p.Y455C	INTS8_ENST00000447247.1_Missense_Mutation_p.Y455C	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	455					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GATCTGCAGTATGTTTTCATG	0.333																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(1363-1365)tAt>tGt		integrator complex subunit 8							130.0	127.0	128.0					8																	95862176		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95862176A>G	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1364A>G	8.37:g.95862176A>G	ENSP00000430338:p.Tyr455Cys					INTS8_ENST00000447247.1_Missense_Mutation_p.Y455C	p.Y455C	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			12	1497	+	Breast(36;1.05e-06)		455					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.1364A>G	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.07|14.07	2.426764|2.426764	0.43020|0.43020	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.54|5.54	4.25|4.25	0.50352|0.50352	.|.	.|0.174192	.|0.51477	.|D	.|0.000081	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.08118|0.08118	0|0	0.32670|0.32670	N|N	0.516892|0.516892	.|B;P	.|0.49447	.|0.188;0.924	.|B;B	.|0.42555	.|0.163;0.391	T|T	0.17410|0.17410	-1.0370|-1.0370	5|9	.|0.56958	.|D	.|0.05	-23.3761|-23.3761	8.5555|8.5555	0.33478|0.33478	0.6254:0.0:0.0:0.3746|0.6254:0.0:0.0:0.3746	.|.	.|455;455	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	V|C	277|455	.|.	.|ENSP00000343274:Y455C	M|Y	+|+	1|2	0|0	INTS8|INTS8	95931352|95931352	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.015000|6.015000	0.70791|0.70791	2.230000|2.230000	0.72887|0.72887	0.528000|0.528000	0.53228|0.53228	ATG|TAT		0.333	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		9	61	0	0	0	1	0	9	61				
FNDC1	84624	broad.mit.edu	37	6	159655348	159655348	+	Silent	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:159655348C>T	ENST00000297267.9	+	11	4004	c.3804C>T	c.(3802-3804)acC>acT	p.T1268T	FNDC1_ENST00000340366.6_Silent_p.T1205T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1268					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCTGCCACCGTGAGCCCCG	0.726																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3802-3804)acC>acT		fibronectin type III domain containing 1							11.0	14.0	13.0					6																	159655348		1999	4122	6121	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159655348C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3804C>T	6.37:g.159655348C>T						FNDC1_ENST00000340366.6_Silent_p.T1205T	p.T1268T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	4004	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1268					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.3804C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	5.140	0.211485	0.09757	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.1	-1.53	0.08611	.	.	.	.	.	T	0.07007	0.0178	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.36407	-0.9749	4	.	.	.	-10.6719	2.0184	0.03503	0.2476:0.2358:0.3639:0.1526	.	.	.	.	C	1164	.	.	R	+	1	0	FNDC1	159575338	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.174000	0.09839	-0.733000	0.04850	-0.834000	0.03071	CGT		0.726	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		3	14	0	0	0	1	0	3	14				
GMPPB	29925	broad.mit.edu	37	3	49755534	49755534	+	3'UTR	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:49755534G>A	ENST00000480687.1	-	0	4850				RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.V455V|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Silent_p.V455V			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCCAGAAAGACTACGTGCT	0.637																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(1363-1365)gtC>gtT		adhesion molecule with Ig-like domain 3							84.0	80.0	82.0					3																	49755534		2203	4299	6502	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755534G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3651C>T	3.37:g.49755534G>A						AMIGO3_ENST00000320431.7_Silent_p.V455V|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR	p.V455V			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4815	-			455					A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.1365C>T	CCDS2803.1																																																																																				0.637	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		18	101	0	0	0	1	0	18	101				
CLIC4	25932	broad.mit.edu	37	1	25166432	25166432	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:25166432A>G	ENST00000374379.4	+	5	694	c.497A>G	c.(496-498)aAt>aGt	p.N166S		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	166	GST C-terminal.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		ATTGATGAAAATAGTATGGAG	0.418																																						ENST00000374379.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(496-498)aAt>aGt		chloride intracellular channel 4							77.0	72.0	74.0					1																	25166432		2203	4300	6503	SO:0001583	missense	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25166432A>G	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.497A>G	1.37:g.25166432A>G	ENSP00000363500:p.Asn166Ser						p.N166S	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	5	694	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	166			GST C-terminal.		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	ENST00000374379.4	37	c.497A>G	CCDS256.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879636	0.72294	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	D	0.93604	-3.25	5.63	5.63	0.86233	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	L	0.52364	1.645	0.27544	N	0.950711	P;D	0.69078	0.859;0.997	P;D	0.75020	0.554;0.985	D	0.90553	0.4510	10	0.33141	T	0.24	-25.4678	15.8457	0.78887	1.0:0.0:0.0:0.0	.	146;166	B3KTR3;Q9Y696	.;CLIC4_HUMAN	S	166	ENSP00000363500:N166S	ENSP00000363500:N166S	N	+	2	0	CLIC4	25039019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.576000	0.82467	2.156000	0.67533	0.477000	0.44152	AAT		0.418	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		8	35	0	0	0	1	0	8	35				
GSTM3	2947	broad.mit.edu	37	1	110280353	110280353	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:110280353G>A	ENST00000540225.1	-	7	703	c.393C>T	c.(391-393)taC>taT	p.Y131Y	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Silent_p.Y131Y|GSTM3_ENST00000256594.3_Silent_p.Y131Y|GSTM3_ENST00000488824.1_5'UTR			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	131	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	GCTCTTCCAAGTACTGAGGCT	0.438																																						ENST00000540225.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(391-393)taC>taT		glutathione S-transferase mu 3 (brain)	Glutathione(DB00143)						91.0	100.0	97.0					1																	110280353		2203	4300	6503	SO:0001819	synonymous_variant	2947				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding	g.chr1:110280353G>A	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.393C>T	1.37:g.110280353G>A						GSTM3_ENST00000256594.3_Silent_p.Y131Y|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Silent_p.Y131Y|GSTM3_ENST00000488824.1_5'UTR	p.Y131Y			P21266	GSTM3_HUMAN		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	703	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	131			GST C-terminal.		O60550|Q96HA3	Silent	SNP	ENST00000540225.1	37	c.393C>T	CCDS812.1																																																																																				0.438	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849		8	103	0	0	0	1	0	8	103				
TUBGCP5	114791	broad.mit.edu	37	15	22842162	22842162	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:22842162G>A	ENST00000283645.4	+	6	731	c.601G>A	c.(601-603)Gat>Aat	p.D201N	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D201N	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	201					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CAGAAAACTGGATCCTTGTAT	0.403																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(601-603)Gat>Aat		tubulin, gamma complex associated protein 5							106.0	101.0	103.0					15																	22842162		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22842162G>A	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.601G>A	15.37:g.22842162G>A	ENSP00000283645:p.Asp201Asn					TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D201N	p.D201N	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	6	731	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	201					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.601G>A	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	5.110	0.205979	0.09704	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.23754	1.89;1.89	5.16	5.16	0.70880	.	0.642738	0.15433	N	0.262597	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.005	T	0.13495	-1.0507	10	0.17832	T	0.49	-2.4139	14.601	0.68441	0.0:0.1458:0.8542:0.0	.	201;201	Q96RT8;E9PB12	GCP5_HUMAN;.	N	201	ENSP00000283645:D201N;ENSP00000409217:D201N	ENSP00000283645:D201N	D	+	1	0	TUBGCP5	20393603	0.252000	0.23972	0.006000	0.13384	0.415000	0.31203	3.606000	0.54095	2.579000	0.87056	0.591000	0.81541	GAT		0.403	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		7	63	0	0	0	1	0	7	63				
KRT85	3891	broad.mit.edu	37	12	52754648	52754648	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:52754648G>T	ENST00000257901.3	-	9	1588	c.1513C>A	c.(1513-1515)Cgc>Agc	p.R505S	KRT85_ENST00000544265.1_Missense_Mutation_p.R293S	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	505	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TAGGCAAAGCGGACCGACCGG	0.612																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1513-1515)Cgc>Agc		keratin 85							44.0	52.0	49.0					12																	52754648		2200	4299	6499	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52754648G>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1513C>A	12.37:g.52754648G>T	ENSP00000257901:p.Arg505Ser					KRT85_ENST00000544265.1_Missense_Mutation_p.R293S	p.R505S	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1588	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		505			Tail.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.1513C>A	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997240	0.35226	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;T	0.81821	-1.54;-1.45	5.22	4.31	0.51392	.	0.000000	0.49916	D	0.000123	T	0.63616	0.2526	N	0.22421	0.69	0.27617	N	0.948472	P	0.48764	0.915	B	0.35510	0.204	T	0.66168	-0.5991	10	0.87932	D	0	.	9.8318	0.40946	0.0945:0.0:0.9055:0.0	.	505	P78386	KRT85_HUMAN	S	505;293	ENSP00000257901:R505S;ENSP00000440240:R293S	ENSP00000257901:R505S	R	-	1	0	KRT85	51040915	0.998000	0.40836	0.994000	0.49952	0.193000	0.23685	3.099000	0.50267	2.711000	0.92665	0.609000	0.83330	CGC		0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		8	80	1	0	1.26484e-09	1	1.402e-09	8	80				
ZNF106	64397	broad.mit.edu	37	15	42742071	42742071	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:42742071G>A	ENST00000263805.4	-	2	2656	c.2330C>T	c.(2329-2331)aCc>aTc	p.T777I	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	777					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTGCCGTAGGGTTGGCTTGAG	0.502																																						ENST00000263805.4																			0											c.(2329-2331)aCc>aTc		zinc finger protein 106							214.0	209.0	211.0					15																	42742071		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742071G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2330C>T	15.37:g.42742071G>A	ENSP00000263805:p.Thr777Ile					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.T777I	NM_022473.1	NP_071918.1					2	2656	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2330C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583943	0.86748	.	.	ENSG00000103994	ENST00000263805	T	0.37411	1.2	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.60672	-0.7217	10	0.62326	D	0.03	-13.01	20.3226	0.98684	0.0:0.0:1.0:0.0	.	560;777	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	I	777	ENSP00000263805:T777I	ENSP00000263805:T777I	T	-	2	0	ZFP106	40529363	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.805000	0.96524	0.650000	0.86243	ACC		0.502	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		11	172	0	0	0	1	0	11	172				
HOXC9	3225	broad.mit.edu	37	12	54394191	54394191	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:54394191G>A	ENST00000303450.4	+	1	289	c.219G>A	c.(217-219)tcG>tcA	p.S73S	HOXC9_ENST00000508190.1_Silent_p.S73S|HOXC9_ENST00000504557.1_Intron|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	73					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCTCTCAGTCGTCCGTGGTAT	0.677																																						ENST00000303450.4																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(217-219)tcG>tcA		homeobox C9							34.0	33.0	33.0					12																	54394191		2203	4299	6502	SO:0001819	synonymous_variant	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54394191G>A		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.219G>A	12.37:g.54394191G>A						HOXC9_ENST00000508190.1_Silent_p.S73S|HOXC9_ENST00000504557.1_Intron	p.S73S	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN			1	289	+			73					B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	c.219G>A	CCDS8869.1																																																																																				0.677	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			7	34	0	0	0	1	0	7	34				
CDKL2	8999	broad.mit.edu	37	4	76529139	76529139	+	Splice_Site	SNP	A	A	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr4:76529139A>T	ENST00000429927.2	-	6	1360	c.657T>A	c.(655-657)ggT>ggA	p.G219G	CDKL2_ENST00000307465.4_Splice_Site_p.G219G	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAATTAGATTACCTGGAAGTG	0.393																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.e6-1		cyclin-dependent kinase-like 2 (CDC2-related kinase)							69.0	70.0	70.0					4																	76529139		2203	4300	6503	SO:0001630	splice_region_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76529139A>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.656-1T>A	4.37:g.76529139A>T						CDKL2_ENST00000307465.4_Splice_Site_p.G219_splice	p.G219_splice	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		6	1360	-			219			Protein kinase.		B2R695	Splice_Site	SNP	ENST00000429927.2	37	c.655_splice	CCDS3570.1																																																																																				0.393	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948	Silent	10	57	0	0	0	1	0	10	57				
DPPA2	151871	broad.mit.edu	37	3	109028057	109028057	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:109028057C>A	ENST00000478945.1	-	4	548	c.302G>T	c.(301-303)cGg>cTg	p.R101L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.R101L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCAGTCCCGCAAAGTGTC	0.453																																						ENST00000478945.1																			1	Substitution - Missense(1)	p.R101L(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(301-303)cGg>cTg		developmental pluripotency associated 2							195.0	200.0	198.0					3																	109028057		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028057C>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.302G>T	3.37:g.109028057C>A	ENSP00000417710:p.Arg101Leu						p.R101L	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			4	548	-			101			SAP.		Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.302G>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299766	0.40694	.	.	ENSG00000163530	ENST00000478945	T	0.60797	0.16	4.48	3.6	0.41247	DNA-binding SAP (2);	0.138820	0.33161	N	0.005214	T	0.70954	0.3283	M	0.75777	2.31	0.29380	N	0.863352	D	0.89917	1.0	D	0.87578	0.998	T	0.65845	-0.6069	10	0.87932	D	0	-12.9163	7.6849	0.28534	0.0:0.8885:0.0:0.1115	.	101	Q7Z7J5	DPPA2_HUMAN	L	101	ENSP00000417710:R101L	ENSP00000417710:R101L	R	-	2	0	DPPA2	110510747	0.128000	0.22383	0.899000	0.35326	0.022000	0.10575	0.531000	0.23052	2.489000	0.83994	0.561000	0.74099	CGG		0.453	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		12	214	1	0	0.000978159	1	0.00102262	12	214				
RBM39	9584	broad.mit.edu	37	20	34313042	34313042	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr20:34313042T>A	ENST00000253363.6	-	7	475	c.452A>T	c.(451-453)gAt>gTt	p.D151V	RBM39_ENST00000528062.3_Missense_Mutation_p.D129V|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000361162.6_Missense_Mutation_p.D151V			Q14498	RBM39_HUMAN	RNA binding motif protein 39	151					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D151V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGTCCTTGCATCTCTTTCCTC	0.318																																						ENST00000361162.6																			1	Substitution - Missense(1)	p.D151V(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(451-453)gAt>gTt		RNA binding motif protein 39							96.0	95.0	96.0					20																	34313042		2202	4300	6502	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34313042T>A	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.452A>T	20.37:g.34313042T>A	ENSP00000253363:p.Asp151Val					RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.D151V|RBM39_ENST00000528062.3_Missense_Mutation_p.D129V	p.D151V	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			7	836	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		151					A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.452A>T	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.738676|4.738676	0.89573|0.89573	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927|ENST00000448303	T;T;T;T;T;T|T	0.52057|0.05925	0.68;0.68;0.68;0.94;0.94;0.68|3.37	5.0|5.0	5.0|5.0	0.66597|0.66597	Nucleotide-binding, alpha-beta plait (1);|.	0.046134|.	0.85682|.	D|.	0.000000|.	T|T	0.26846|0.26846	0.0657|0.0657	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;0.998;0.997;0.997|.	T|T	0.07539|0.07539	-1.0767|-1.0767	10|7	0.72032|0.87932	D|D	0.01|0	.|.	14.8752|14.8752	0.70488|0.70488	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	129;129;151;151;127|.	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7|.	.;.;.;RBM39_HUMAN;.|.	V|S	151;151;129;150;129;151|23	ENSP00000253363:D151V;ENSP00000354437:D151V;ENSP00000436747:D129V;ENSP00000363150:D150V;ENSP00000406801:D129V;ENSP00000393493:D151V|ENSP00000394824:R23S	ENSP00000253363:D151V|ENSP00000394824:R23S	D|R	-|-	2|3	0|2	RBM39|RBM39	33776456|33776456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.782000|7.782000	0.85680|0.85680	2.101000|2.101000	0.63845|0.63845	0.533000|0.533000	0.62120|0.62120	GAT|AGA		0.318	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		13	78	0	0	0	1	0	13	78				
DFNB59	494513	broad.mit.edu	37	2	179325974	179325974	+	Silent	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr2:179325974T>C	ENST00000409117.3	+	7	1388	c.1032T>C	c.(1030-1032)ttT>ttC	p.F344F	DFNB59_ENST00000375129.4_Silent_p.F344F	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	344					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTCCTTGTTTTGATATTTGGC	0.398																																						ENST00000409117.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(1030-1032)ttT>ttC		deafness, autosomal recessive 59							149.0	141.0	144.0					2																	179325974		1858	4117	5975	SO:0001819	synonymous_variant	494513				sensory perception of sound			g.chr2:179325974T>C	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.1032T>C	2.37:g.179325974T>C						DFNB59_ENST00000375129.4_Silent_p.F344F	p.F344F	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		7	1388	+			344					A0PK14|B9EJE2	Silent	SNP	ENST00000409117.3	37	c.1032T>C	CCDS42787.1																																																																																				0.398	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			23	113	0	0	0	1	0	23	113				
PIWIL2	55124	broad.mit.edu	37	8	22145051	22145051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr8:22145051G>T	ENST00000454009.2	+	7	1263	c.754G>T	c.(754-756)Gag>Tag	p.E252*	PIWIL2_ENST00000356766.6_Nonsense_Mutation_p.E252*|PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.E252*	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	252					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCCAATGTGGAGTGCAAAAG	0.453											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(754-756)Gag>Tag		piwi-like RNA-mediated gene silencing 2							150.0	123.0	132.0					8																	22145051		2203	4300	6503	SO:0001587	stop_gained	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22145051G>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.754G>T	8.37:g.22145051G>T	ENSP00000406956:p.Glu252*		OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	753	PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.E252*|PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.E252*	p.E252*	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	7	902	+			252					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Nonsense_Mutation	SNP	ENST00000454009.2	37	c.754G>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	39	7.493813	0.98319	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	.	.	.	6.04	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-15.8149	16.4546	0.84008	0.0:0.1315:0.8685:0.0	.	.	.	.	X	252	.	ENSP00000349208:E252X	E	+	1	0	PIWIL2	22200996	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.569000	0.90744	1.565000	0.49641	0.563000	0.77884	GAG		0.453	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			12	62	1	0	7.03913e-09	1	7.70952e-09	12	62				
ST18	9705	broad.mit.edu	37	8	53079446	53079446	+	Silent	SNP	C	C	T	rs375570357		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr8:53079446C>T	ENST00000276480.7	-	11	1853	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	390					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S390S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGGGCACCCCGAAAGGCTGC	0.562																																						ENST00000276480.7																			1	Substitution - coding silent(1)	p.S390S(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1168-1170)tcG>tcA		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)		C		1,4405	2.1+/-5.4	0,1,2202	89.0	89.0	89.0		1170	-6.6	0.8	8		89	0,8600		0,0,4300	no	coding-synonymous	ST18	NM_014682.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		390/1048	53079446	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53079446C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1170G>A	8.37:g.53079446C>T							p.S390S	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			11	1853	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	390					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1170G>A	CCDS6149.1																																																																																				0.562	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			15	100	0	0	0	1	0	15	100				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	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			4	33	1	0	0.00909568	1	0.00929781	4	33				
TENM2	57451	broad.mit.edu	37	5	167674211	167674211	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr5:167674211T>A	ENST00000518659.1	+	27	6306	c.6267T>A	c.(6265-6267)ttT>ttA	p.F2089L	TENM2_ENST00000520394.1_Missense_Mutation_p.F1850L|TENM2_ENST00000403607.2_Missense_Mutation_p.F1913L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2088L|TENM2_ENST00000519204.1_Missense_Mutation_p.F1968L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2089					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ATGCCAGGTTTGACTACACCT	0.542																																						ENST00000519204.1																			0											c.(5902-5904)ttT>ttA		teneurin transmembrane protein 2							153.0	151.0	152.0					5																	167674211		2049	4200	6249	SO:0001583	missense	57451							g.chr5:167674211T>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6267T>A	5.37:g.167674211T>A	ENSP00000429430:p.Phe2089Leu					TENM2_ENST00000520394.1_Missense_Mutation_p.F1850L|TENM2_ENST00000518659.1_Missense_Mutation_p.F2089L|TENM2_ENST00000403607.2_Missense_Mutation_p.F1913L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2088L	p.F1968L							26	6022	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5904T>A		.	.	.	.	.	.	.	.	.	.	T	18.37	3.608135	0.66558	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90788	-2.27;-2.26;-2.37;-2.7;-2.73	5.32	-7.81	0.01210	.	0.000000	0.85682	D	0.000000	D	0.92011	0.7469	L	0.59436	1.845	0.44531	D	0.997482	D;D;D	0.76494	0.999;0.998;0.982	D;D;D	0.87578	0.998;0.995;0.961	D	0.91991	0.5603	10	0.54805	T	0.06	.	15.804	0.78477	0.0:0.582:0.0:0.418	.	2088;2089;1850	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2089;2088;1968;1850;1913	ENSP00000429430:F2089L;ENSP00000438635:F2088L;ENSP00000428964:F1968L;ENSP00000427874:F1850L;ENSP00000384905:F1913L	ENSP00000384905:F1913L	F	+	3	2	ODZ2	167606789	0.004000	0.15560	0.811000	0.32455	0.965000	0.64279	-1.119000	0.03276	-1.650000	0.01506	-0.366000	0.07423	TTT		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		26	85	0	0	0	1	0	26	85				
SLC7A14	57709	broad.mit.edu	37	3	170204107	170204107	+	Silent	SNP	G	G	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:170204107G>T	ENST00000231706.5	-	5	1125	c.810C>A	c.(808-810)atC>atA	p.I270I	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	270					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGGTGGCGATGATGTCAAAGC	0.517																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(808-810)atC>atA		solute carrier family 7, member 14							336.0	251.0	280.0					3																	170204107		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170204107G>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.810C>A	3.37:g.170204107G>T						CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.I270I	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		5	1125	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		270					B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.810C>A	CCDS33892.1																																																																																				0.517	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		10	64	1	0	9.70103e-10	1	1.08841e-09	10	64				
NOTCH1	4851	broad.mit.edu	37	9	139404293	139404293	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr9:139404293C>T	ENST00000277541.6	-	18	2936	c.2861G>A	c.(2860-2862)tGc>tAc	p.C954Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	954	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCGTTGCGGCAGGGGTCACT	0.637			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2860-2862)tGc>tAc		notch 1							77.0	89.0	85.0					9																	139404293		2071	4214	6285	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139404293C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2861G>A	9.37:g.139404293C>T	ENSP00000277541:p.Cys954Tyr	HNSCC(8;0.001)					p.C954Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	18	2936	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	954			EGF-like 25; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2861G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884397	0.91814	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	4.71	4.71	0.59529	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99991	1.4323	10	0.87932	D	0	.	16.2289	0.82318	0.0:1.0:0.0:0.0	.	954	P46531	NOTC1_HUMAN	Y	954	ENSP00000277541:C954Y	ENSP00000277541:C954Y	C	-	2	0	NOTCH1	138524114	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.649000	0.83500	2.151000	0.67156	0.655000	0.94253	TGC		0.637	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	86	0	0	0	1	0	13	86				
BSN	8927	broad.mit.edu	37	3	49699836	49699836	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:49699836C>G	ENST00000296452.4	+	6	10672	c.10558C>G	c.(10558-10560)Ccc>Gcc	p.P3520A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3520					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGCCGGAGGGCCCCTCCCTCC	0.672																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(10558-10560)Ccc>Gcc		bassoon presynaptic cytomatrix protein							27.0	32.0	30.0					3																	49699836		2203	4298	6501	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49699836C>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10558C>G	3.37:g.49699836C>G	ENSP00000296452:p.Pro3520Ala						p.P3520A	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	10672	+			3520					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.10558C>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369633	0.24771	.	.	ENSG00000164061	ENST00000296452	T	0.20332	2.08	5.82	-11.6	0.00059	.	0.899033	0.09799	N	0.754332	T	0.17152	0.0412	M	0.62723	1.935	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26258	-1.0108	10	0.21014	T	0.42	-0.251	15.7939	0.78394	0.1055:0.489:0.4056:0.0	.	3520	Q9UPA5	BSN_HUMAN	A	3520	ENSP00000296452:P3520A	ENSP00000296452:P3520A	P	+	1	0	BSN	49674840	0.000000	0.05858	0.001000	0.08648	0.996000	0.88848	-1.044000	0.03532	-1.934000	0.01051	0.655000	0.94253	CCC		0.672	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	35	0	0	0	1	0	4	35				
GPR162	27239	broad.mit.edu	37	12	6935880	6935880	+	Silent	SNP	A	A	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:6935880A>T	ENST00000311268.3	+	5	2065	c.1278A>T	c.(1276-1278)ccA>ccT	p.P426P	GPR162_ENST00000382315.3_Silent_p.P122P|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000428545.2_Silent_p.P142P|LEPREL2_ENST00000251761.8_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	426						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CTCGGGAACCAGGCTCCTTCC	0.612																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(1276-1278)ccA>ccT		G protein-coupled receptor 162							99.0	110.0	106.0					12																	6935880		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6935880A>T	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1278A>T	12.37:g.6935880A>T						GPR162_ENST00000428545.2_Silent_p.P142P|GPR162_ENST00000382315.3_Silent_p.P122P	p.P426P	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			5	2065	+			426					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.1278A>T	CCDS8563.1																																																																																				0.612	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		18	129	0	0	0	1	0	18	129				
ZNF345	25850	broad.mit.edu	37	19	37368782	37368782	+	Silent	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr19:37368782C>G	ENST00000529555.1	+	2	1838	c.1050C>G	c.(1048-1050)acC>acG	p.T350T	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Silent_p.T350T|ZNF345_ENST00000420450.1_Silent_p.T350T|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	350					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGGAAGACCTTTAGTAGTG	0.408																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1048-1050)acC>acG		zinc finger protein 345							79.0	79.0	79.0					19																	37368782		2203	4300	6503	SO:0001819	synonymous_variant	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368782C>G	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1050C>G	19.37:g.37368782C>G						ZNF345_ENST00000420450.1_Silent_p.T350T|ZNF345_ENST00000589046.1_Silent_p.T350T|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	p.T350T			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1838	+	Esophageal squamous(110;0.183)		350						Silent	SNP	ENST00000529555.1	37	c.1050C>G	CCDS12497.1																																																																																				0.408	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			8	54	0	0	0	1	0	8	54				
SYTL4	94121	broad.mit.edu	37	X	99934388	99934388	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chrX:99934388T>C	ENST00000372989.1	-	17	1911	c.1580A>G	c.(1579-1581)gAg>gGg	p.E527G	SYTL4_ENST00000263033.5_Missense_Mutation_p.E527G|SYTL4_ENST00000455616.1_Missense_Mutation_p.E527G|SYTL4_ENST00000454200.2_Missense_Mutation_p.E529G|SYTL4_ENST00000491602.1_5'Flank|SYTL4_ENST00000276141.6_Missense_Mutation_p.E527G	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	527	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CACCTGGAGCTCTCCCCCTTC	0.522																																						ENST00000455616.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1579-1581)gAg>gGg		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						126.0	90.0	102.0					X																	99934388		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99934388T>C		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1580A>G	X.37:g.99934388T>C	ENSP00000362080:p.Glu527Gly					SYTL4_ENST00000263033.5_Missense_Mutation_p.E527G|SYTL4_ENST00000454200.2_Missense_Mutation_p.E529G|SYTL4_ENST00000276141.6_Missense_Mutation_p.E527G|SYTL4_ENST00000372989.1_Missense_Mutation_p.E527G	p.E527G			Q96C24	SYTL4_HUMAN			16	1926	-			527			C2 2.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1580A>G	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364334	0.82463	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	4.87	4.87	0.63330	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.051703	0.85682	D	0.000000	T	0.21145	0.0509	L	0.55103	1.725	0.80722	D	1	D	0.69078	0.997	D	0.64144	0.922	T	0.00593	-1.1654	9	.	.	.	-17.4104	13.6574	0.62346	0.0:0.0:0.0:1.0	.	527	Q96C24	SYTL4_HUMAN	G	527;527;529;527;527	ENSP00000362080:E527G;ENSP00000390252:E527G;ENSP00000403556:E529G;ENSP00000276141:E527G;ENSP00000263033:E527G	.	E	-	2	0	SYTL4	99821044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.802000	0.69122	1.798000	0.52647	0.486000	0.48141	GAG		0.522	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		6	22	0	0	0	1	0	6	22				
CD70	970	broad.mit.edu	37	19	6586202	6586202	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr19:6586202G>A	ENST00000245903.3	-	3	560	c.411C>T	c.(409-411)tcC>tcT	p.S137S	CD70_ENST00000423145.3_Silent_p.S137S	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	137					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						TGATGCTACGGGAGGCGGGAG	0.652																																					Pancreas(183;2617 2876 10173 34193)	ENST00000245903.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						c.(409-411)tcC>tcT		CD70 molecule							98.0	79.0	86.0					19																	6586202		2203	4300	6503	SO:0001819	synonymous_variant	970				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding	g.chr19:6586202G>A	L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11937	protein-coding gene	gene with protein product		602840	"""tumor necrosis factor (ligand) superfamily, member 7"""	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.411C>T	19.37:g.6586202G>A						CD70_ENST00000423145.3_Silent_p.S137S	p.S137S	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN			3	560	-			137					B4DPR8|Q53XX4|Q96J57	Silent	SNP	ENST00000245903.3	37	c.411C>T	CCDS12170.1																																																																																				0.652	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457860.1			10	49	0	0	0	1	0	10	49				
MSH2	4436	broad.mit.edu	37	2	47705433	47705433	+	Missense_Mutation	SNP	A	A	G	rs587779142|rs267608008		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr2:47705433A>G	ENST00000233146.2	+	14	2456	c.2233A>G	c.(2233-2235)Ata>Gta	p.I745V	MSH2_ENST00000406134.1_Missense_Mutation_p.I745V|MSH2_ENST00000543555.1_Missense_Mutation_p.I679V	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	745			Missing (in HNPCC1; mainly causes defects in mismatch binding or release efficiency). {ECO:0000269|PubMed:17101317}.		ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATTCATTAATAATCATAGA	0.338			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(2233-2235)Ata>Gta	Mismatch excision repair (MMR)	mutS homolog 2							115.0	117.0	117.0					2																	47705433		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47705433A>G	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2233A>G	2.37:g.47705433A>G	ENSP00000233146:p.Ile745Val					MSH2_ENST00000543555.1_Missense_Mutation_p.I679V|MSH2_ENST00000233146.2_Missense_Mutation_p.I745V	p.I745V			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		14	2295	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	745		Missing (in HNPCC1; mainly causes defects in mismatch binding or release efficiency).			B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.2233A>G	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357825	0.41801	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000413880	D;D;D	0.83837	-1.77;-1.77;-1.77	5.13	3.95	0.45737	DNA mismatch repair protein MutS, C-terminal (3);	0.141468	0.64402	D	0.000005	T	0.65207	0.2669	N	0.05124	-0.11	0.58432	D	0.999998	P;P;B	0.38148	0.62;0.62;0.106	B;B;B	0.36092	0.217;0.217;0.098	T	0.63959	-0.6519	10	0.30854	T	0.27	-21.7719	12.0331	0.53410	0.8554:0.1446:0.0:0.0	.	679;745;745	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	V	745;679;745;745;531	ENSP00000233146:I745V;ENSP00000442697:I679V;ENSP00000384199:I745V	ENSP00000233146:I745V	I	+	1	0	MSH2	47558937	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	8.713000	0.91408	0.940000	0.37473	0.472000	0.43445	ATA		0.338	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			11	111	0	0	0	1	0	11	111				
SHCBP1L	81626	broad.mit.edu	37	1	182873476	182873476	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:182873476G>A	ENST00000367547.3	-	8	1662	c.1426C>T	c.(1426-1428)Cat>Tat	p.H476Y	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.H357Y|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	548										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AAAGATAGATGCATTAGTTTC	0.408																																						ENST00000367547.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(1426-1428)Cat>Tat		SHC SH2-domain binding protein 1-like							181.0	185.0	183.0					1																	182873476		2203	4300	6503	SO:0001583	missense	81626							g.chr1:182873476G>A	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1426C>T	1.37:g.182873476G>A	ENSP00000356518:p.His476Tyr					SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.H357Y	p.H476Y	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN			8	1662	-			548					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.1426C>T	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421130	0.42918	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.42513	0.97;0.97	5.55	3.63	0.41609	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.207319	0.34178	N	0.004186	T	0.33644	0.0870	N	0.22421	0.69	0.27189	N	0.960469	P;B;P	0.48911	0.917;0.077;0.898	P;B;B	0.45577	0.486;0.058;0.354	T	0.15065	-1.0450	10	0.66056	D	0.02	-8.0664	11.7536	0.51862	0.0:0.0:0.5362:0.4638	.	548;357;476	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	Y	476;545;357	ENSP00000356518:H476Y;ENSP00000397308:H357Y	ENSP00000287709:H545Y	H	-	1	0	SHCBP1L	181140099	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	0.926000	0.28804	0.663000	0.31027	0.655000	0.94253	CAT		0.408	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		10	82	0	0	0	1	0	10	82				
FNDC1	84624	broad.mit.edu	37	6	159653389	159653389	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:159653389G>A	ENST00000297267.9	+	11	2045	c.1845G>A	c.(1843-1845)tcG>tcA	p.S615S	FNDC1_ENST00000340366.6_Silent_p.S552S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	615					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGCCCCCCTCGGCTTCGGCCT	0.677																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1843-1845)tcG>tcA		fibronectin type III domain containing 1							22.0	26.0	25.0					6																	159653389		1992	4148	6140	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653389G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1845G>A	6.37:g.159653389G>A						FNDC1_ENST00000340366.6_Silent_p.S552S	p.S615S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2045	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	615					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1845G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	2.867	-0.234877	0.05983	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.17	-8.34	0.00988	.	.	.	.	.	T	0.03827	0.0108	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05649	-1.0872	4	.	.	.	0.6215	2.3538	0.04291	0.4469:0.0804:0.2478:0.2249	.	.	.	.	S	511	.	.	G	+	1	0	FNDC1	159573379	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.683000	0.00394	-5.679000	0.00010	-2.805000	0.00112	GGC		0.677	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		13	43	0	0	0	1	0	13	43				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	42	0	0	0	1	0	4	42				
RXFP3	51289	broad.mit.edu	37	5	33937025	33937025	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr5:33937025G>A	ENST00000330120.3	+	1	535	c.180G>A	c.(178-180)gcG>gcA	p.A60A		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	60					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGACGGCGCGCCGCCAGGAC	0.701																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(178-180)gcG>gcA		relaxin/insulin-like family peptide receptor 3							48.0	62.0	57.0					5																	33937025		2202	4299	6501	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937025G>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.180G>A	5.37:g.33937025G>A							p.A60A	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	535	+			60					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.180G>A	CCDS3900.1																																																																																				0.701	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		18	105	0	0	0	1	0	18	105				
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T	rs200047587	byFrequency	TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AGGGCACATGCCTGACCAGAC	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195701304C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701304C>T								NR_003264.2						0	1520	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	47	0	0	0	1	0	7	47				
DPP8	54878	broad.mit.edu	37	15	65744400	65744400	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:65744400T>C	ENST00000341861.5	-	18	3940	c.2360A>G	c.(2359-2361)tAt>tGt	p.Y787C	DPP8_ENST00000358939.4_Missense_Mutation_p.Y671C|DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000339244.5_Missense_Mutation_p.Y614C|DPP8_ENST00000300141.6_Missense_Mutation_p.Y771C|DPP8_ENST00000321118.7_Missense_Mutation_p.Y738C|DPP8_ENST00000559233.1_Missense_Mutation_p.Y787C|DPP8_ENST00000321147.6_Missense_Mutation_p.Y736C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	787					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCTGTATCATAGAAGATCCA	0.478																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2359-2361)tAt>tGt		dipeptidyl-peptidase 8							148.0	140.0	143.0					15																	65744400		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65744400T>C	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2360A>G	15.37:g.65744400T>C	ENSP00000339208:p.Tyr787Cys					DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000358939.4_Missense_Mutation_p.Y671C|DPP8_ENST00000559233.1_Missense_Mutation_p.Y787C|DPP8_ENST00000339244.5_Missense_Mutation_p.Y614C|DPP8_ENST00000321147.6_Missense_Mutation_p.Y736C|DPP8_ENST00000321118.7_Missense_Mutation_p.Y738C|DPP8_ENST00000300141.6_Missense_Mutation_p.Y771C	p.Y787C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			18	3940	-			787					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.2360A>G	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.368867	0.61624	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.42	5.42	0.78866	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.76737	0.4029	H	0.99074	4.42	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.997;1.0;1.0	D	0.87153	0.2210	10	0.87932	D	0	-13.1853	15.4562	0.75314	0.0:0.0:0.0:1.0	.	614;738;771;671;736;787	C9JSG1;Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;.;DPP8_HUMAN	C	787;671;771;736;738;614	ENSP00000339208:Y787C;ENSP00000351817:Y671C;ENSP00000300141:Y771C;ENSP00000318111:Y736C;ENSP00000316373:Y738C;ENSP00000341230:Y614C	ENSP00000300141:Y771C	Y	-	2	0	DPP8	63531453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.056000	0.61249	0.460000	0.39030	TAT		0.478	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		25	108	0	0	0	1	0	25	108				
ARHGAP20	57569	broad.mit.edu	37	11	110501478	110501478	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr11:110501478G>C	ENST00000260283.4	-	4	510	c.226C>G	c.(226-228)Ctg>Gtg	p.L76V	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L40V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L53V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L50V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L50V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L40V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	76					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AATGATGACAGAAATGTGCAT	0.458																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(226-228)Ctg>Gtg		Rho GTPase activating protein 20							123.0	120.0	121.0					11																	110501478		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110501478G>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.226C>G	11.37:g.110501478G>C	ENSP00000260283:p.Leu76Val					ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L53V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L40V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L40V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L50V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L50V	p.L76V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	4	510	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	76					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.226C>G	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	3.038	-0.198113	0.06219	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.07800	3.17;3.17;3.16;3.17;3.17;3.17	5.74	3.75	0.43078	.	0.193079	0.43919	N	0.000511	T	0.04182	0.0116	N	0.11201	0.11	0.25640	N	0.986216	B;B	0.33022	0.274;0.394	B;B	0.30782	0.056;0.12	T	0.41752	-0.9491	10	0.25751	T	0.34	.	8.8864	0.35406	0.0:0.2791:0.5668:0.1541	.	76;53	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	V	76;50;53;40;50;40	ENSP00000260283:L76V;ENSP00000349660:L50V;ENSP00000432076:L53V;ENSP00000436319:L40V;ENSP00000436522:L50V;ENSP00000431399:L40V	ENSP00000260283:L76V	L	-	1	2	ARHGAP20	110006688	0.990000	0.36364	0.987000	0.45799	0.005000	0.04900	1.542000	0.36137	1.413000	0.46997	-0.188000	0.12872	CTG		0.458	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		7	70	0	0	0	1	0	7	70				
DTX2	113878	broad.mit.edu	37	7	76111982	76111982	+	Silent	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr7:76111982C>T	ENST00000324432.5	+	5	936	c.426C>T	c.(424-426)ctC>ctT	p.L142L	DTX2_ENST00000413936.2_Silent_p.L142L|DTX2_ENST00000446600.1_Silent_p.L51L|DTX2_ENST00000430490.2_Silent_p.L142L|DTX2_ENST00000307569.8_Silent_p.L142L|DTX2_ENST00000446820.2_Silent_p.L142L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	142	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCAACCAGCTCGTGGACTTGG	0.617																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(424-426)ctC>ctT		deltex homolog 2 (Drosophila)							49.0	42.0	44.0					7																	76111982		2203	4300	6503	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76111982C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.426C>T	7.37:g.76111982C>T						DTX2_ENST00000446820.2_Silent_p.L142L|DTX2_ENST00000430490.2_Silent_p.L142L|DTX2_ENST00000446600.1_Silent_p.L51L|DTX2_ENST00000307569.8_Silent_p.L142L|DTX2_ENST00000413936.2_Silent_p.L142L	p.L142L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	936	+			142			WWE 2.		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.426C>T	CCDS5587.1																																																																																				0.617	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			4	36	0	0	0	1	0	4	36				
TNS1	7145	broad.mit.edu	37	2	218682872	218682872	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr2:218682872C>T	ENST00000171887.4	-	24	4323	c.3871G>A	c.(3871-3873)Gca>Aca	p.A1291T	TNS1_ENST00000430930.1_Missense_Mutation_p.A1270T|TNS1_ENST00000419504.1_Missense_Mutation_p.A1278T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1291					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGGCTATTGCATTGCTATGA	0.667																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3871-3873)Gca>Aca		tensin 1							22.0	22.0	22.0					2																	218682872		2203	4296	6499	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218682872C>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3871G>A	2.37:g.218682872C>T	ENSP00000171887:p.Ala1291Thr					TNS1_ENST00000419504.1_Missense_Mutation_p.A1278T|TNS1_ENST00000430930.1_Missense_Mutation_p.A1270T	p.A1291T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	4323	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1291					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3871G>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	1.794	-0.478664	0.04414	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91068	-2.78;2.25;-2.78;-2.78	4.83	-3.87	0.04218	.	0.776720	0.11646	N	0.543260	T	0.78691	0.4323	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.62553	-0.6830	10	0.20519	T	0.43	.	3.5019	0.07676	0.1011:0.1939:0.1696:0.5353	.	1291;1270;1278	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	T	1291;429;1278;1270	ENSP00000171887:A1291T;ENSP00000394171:A429T;ENSP00000408724:A1278T;ENSP00000406016:A1270T	ENSP00000171887:A1291T	A	-	1	0	TNS1	218391117	0.015000	0.18098	0.000000	0.03702	0.067000	0.16453	-0.458000	0.06737	-0.376000	0.07943	0.563000	0.77884	GCA		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		4	24	0	0	0	1	0	4	24				
PPARD	5467	broad.mit.edu	37	6	35392181	35392181	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:35392181C>A	ENST00000311565.4	+	8	1052	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	PPARD_ENST00000444397.1_Missense_Mutation_p.L235M|PPARD_ENST00000337400.2_Missense_Mutation_p.L235M|PPARD_ENST00000418635.2_Missense_Mutation_p.L137M|PPARD_ENST00000540939.1_Missense_Mutation_p.L132M|PPARD_ENST00000360694.3_Missense_Mutation_p.L235M|PPARD_ENST00000448077.2_Missense_Mutation_p.L196M	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	235					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGTGAATGGCCTGCCTCCCTA	0.582																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(703-705)Ctg>Atg		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						71.0	63.0	66.0					6																	35392181		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35392181C>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.703C>A	6.37:g.35392181C>A	ENSP00000310928:p.Leu235Met					PPARD_ENST00000360694.3_Missense_Mutation_p.L235M|PPARD_ENST00000337400.2_Missense_Mutation_p.L235M|PPARD_ENST00000448077.2_Missense_Mutation_p.L196M|PPARD_ENST00000540939.1_Missense_Mutation_p.L132M|PPARD_ENST00000418635.2_Missense_Mutation_p.L137M|PPARD_ENST00000444397.1_Missense_Mutation_p.L235M	p.L235M	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			8	1052	+			235					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.703C>A	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142887	0.37825	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);	0.448353	0.23668	N	0.045752	T	0.33847	0.0877	N	0.02011	-0.69	0.40286	D	0.978458	B;B;B;B	0.32203	0.36;0.181;0.24;0.168	B;B;B;B	0.33890	0.172;0.084;0.112;0.135	T	0.49163	-0.8968	10	0.45353	T	0.12	.	15.3991	0.74823	0.1476:0.8524:0.0:0.0	.	137;196;235;235	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	M	196;235;137;235;235;235;132	ENSP00000414372:L196M;ENSP00000353916:L235M;ENSP00000413314:L137M;ENSP00000410837:L235M;ENSP00000310928:L235M;ENSP00000337063:L235M;ENSP00000443759:L132M	ENSP00000310928:L235M	L	+	1	2	PPARD	35500159	0.995000	0.38212	0.994000	0.49952	0.955000	0.61496	2.280000	0.43443	2.665000	0.90641	0.655000	0.94253	CTG		0.582	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		17	51	1	0	1.67942e-08	1	1.81772e-08	17	51				
DHDDS	79947	broad.mit.edu	37	1	26784352	26784352	+	Silent	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr1:26784352C>A	ENST00000236342.7	+	7	706	c.613C>A	c.(613-615)Cgg>Agg	p.R205R	DHDDS_ENST00000525682.2_Silent_p.R171R|DHDDS_ENST00000526219.1_Silent_p.R166R|DHDDS_ENST00000360009.2_Silent_p.R205R			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	205					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CATCTTGATACGGACTTCTGG	0.453																																						ENST00000360009.2																			0				breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15						c.(613-615)Cgg>Agg		dehydrodolichyl diphosphate synthase							243.0	216.0	226.0					1																	26784352		2203	4300	6503	SO:0001819	synonymous_variant	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26784352C>A	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.613C>A	1.37:g.26784352C>A						DHDDS_ENST00000526219.1_Silent_p.R166R|DHDDS_ENST00000236342.7_Silent_p.R205R|DHDDS_ENST00000525682.2_Silent_p.R171R	p.R205R	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)	7	690	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	205					B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Silent	SNP	ENST00000236342.7	37	c.613C>A	CCDS282.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401797	0.25291	.	.	ENSG00000117682	ENST00000416052	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	T	0.75236	0.3822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72114	-0.4388	4	.	.	.	-17.5462	18.8872	0.92383	0.0:1.0:0.0:0.0	.	.	.	.	K	81	.	.	T	+	2	0	DHDDS	26656939	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	2.048000	0.41278	2.882000	0.98803	0.655000	0.94253	ACG		0.453	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		19	78	1	0	1.96292e-10	1	2.22949e-10	19	78				
SLC25A30	253512	broad.mit.edu	37	13	45973119	45973119	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr13:45973119C>G	ENST00000539591.1	-	7	719	c.556G>C	c.(556-558)Ggc>Cgc	p.G186R				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	237					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		GAACATCTGCCATCTCGAAGC	0.463																																						ENST00000539591.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(556-558)Ggc>Cgc		solute carrier family 25, member 30							132.0	107.0	116.0					13																	45973119		2203	4300	6503	SO:0001583	missense	253512				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	g.chr13:45973119C>G	AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.556G>C	13.37:g.45973119C>G	ENSP00000443542:p.Gly186Arg						p.G186R			Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	7	719	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	237					B2RN96|B4DZK3|F5H8H8	Missense_Mutation	SNP	ENST00000539591.1	37	c.556G>C		.	.	.	.	.	.	.	.	.	.	C	14.15	2.450444	0.43531	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591	T;T	0.80033	-1.33;-1.33	5.21	4.37	0.52481	Mitochondrial carrier domain (2);	0.149593	0.47093	D	0.000259	T	0.76047	0.3933	L	0.52126	1.63	0.42382	D	0.992495	B;B	0.11235	0.004;0.004	B;B	0.16289	0.015;0.015	T	0.73933	-0.3826	10	0.66056	D	0.02	1.7697	13.1399	0.59428	0.0:0.922:0.0:0.078	.	237;237	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	R	237;162;186	ENSP00000429168:G237R;ENSP00000443542:G186R	ENSP00000429168:G237R	G	-	1	0	SLC25A30	44871119	0.801000	0.28930	0.835000	0.33067	0.956000	0.61745	1.744000	0.38268	1.316000	0.45131	0.650000	0.86243	GGC		0.463	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736		12	58	0	0	0	1	0	12	58				
TTN	7273	broad.mit.edu	37	2	179577073	179577073	+	Silent	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr2:179577073T>C	ENST00000591111.1	-	93	26849	c.26625A>G	c.(26623-26625)aaA>aaG	p.K8875K	TTN_ENST00000342992.6_Silent_p.K7948K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.K9192K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13020	Ig-like 71.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAGGAATCTTTTCCAGAGG	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(27574-27576)aaA>aaG		titin							198.0	198.0	198.0					2																	179577073		1875	4100	5975	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577073T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26625A>G	2.37:g.179577073T>C						TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.K8875K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K7948K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA	p.K9192K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		95	27800	-			8875			Ig-like 75.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.27576A>G																																																																																					0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	176	0	0	0	1	0	14	176				
UROC1	131669	broad.mit.edu	37	3	126208138	126208138	+	Silent	SNP	G	G	A	rs576867756		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:126208138G>A	ENST00000290868.2	-	17	1742	c.1689C>T	c.(1687-1689)gaC>gaT	p.D563D	UROC1_ENST00000383579.3_Silent_p.D623D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	563					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGGCAGAGCCGTCGTAAATGT	0.478																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1687-1689)gaC>gaT		urocanate hydratase 1							152.0	145.0	148.0					3																	126208138		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126208138G>A	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1689C>T	3.37:g.126208138G>A						UROC1_ENST00000383579.3_Silent_p.D623D	p.D563D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	17	1742	-			563					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.1689C>T	CCDS3038.1																																																																																				0.478	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		19	129	0	0	0	1	0	19	129				
PCLO	27445	broad.mit.edu	37	7	82784798	82784798	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr7:82784798C>A	ENST00000333891.9	-	2	1496	c.1159G>T	c.(1159-1161)Ggg>Tgg	p.G387W	PCLO_ENST00000423517.2_Missense_Mutation_p.G387W	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCTTTGGCCCAGGCTGCTCC	0.597																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1159-1161)Ggg>Tgg		piccolo presynaptic cytomatrix protein							64.0	64.0	64.0					7																	82784798		1976	4159	6135	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784798C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1159G>T	7.37:g.82784798C>A	ENSP00000334319:p.Gly387Trp					PCLO_ENST00000333891.8_Missense_Mutation_p.G387W	p.G387W	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1496	-			341			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1159G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.614	0.889798	0.17540	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19105	2.17;2.17	3.75	3.75	0.43078	.	.	.	.	.	T	0.40222	0.1108	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71184	0.972;0.972	T	0.23547	-1.0185	9	0.87932	D	0	.	11.3594	0.49633	0.0:1.0:0.0:0.0	.	387;387	Q9Y6V0-5;Q9Y6V0-6	.;.	W	387	ENSP00000334319:G387W;ENSP00000388393:G387W	ENSP00000334319:G387W	G	-	1	0	PCLO	82622734	0.908000	0.30866	0.556000	0.28293	0.624000	0.37722	0.878000	0.28126	2.406000	0.81754	0.655000	0.94253	GGG		0.597	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	58	1	0	1.08611e-07	1	1.16188e-07	12	58				
ATP11B	23200	broad.mit.edu	37	3	182616474	182616474	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:182616474C>G	ENST00000323116.5	+	28	3492	c.3232C>G	c.(3232-3234)Ctc>Gtc	p.L1078V		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1078					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGCCATAATCCTCATGGTTGT	0.403																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(3232-3234)Ctc>Gtc		ATPase, class VI, type 11B							157.0	142.0	147.0					3																	182616474		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182616474C>G	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3232C>G	3.37:g.182616474C>G	ENSP00000321195:p.Leu1078Val						p.L1078V	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		28	3492	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		1078					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.3232C>G	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.58|13.58	2.280380|2.280380	0.40294|0.40294	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116;ENST00000442545|ENST00000491699;ENST00000484691	T|.	0.29917|.	1.55|.	5.55|5.55	3.63|3.63	0.41609|0.41609	.|.	0.228496|.	0.43919|.	D|.	0.000508|.	T|T	0.76765|0.76765	0.4033|0.4033	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32939|.	0.024;0.391;0.01|.	B;B;B|.	0.33392|.	0.057;0.163;0.025|.	T|T	0.79895|0.79895	-0.1610|-0.1610	10|5	0.38643|.	T|.	0.18|.	.|.	13.6349|13.6349	0.62217|0.62217	0.482:0.518:0.0:0.0|0.482:0.518:0.0:0.0	.|.	20;652;1078|.	E9PDZ3;B3KSJ2;Q9Y2G3|.	.;.;AT11B_HUMAN|.	V|R	1078;20|62;27	ENSP00000321195:L1078V|.	ENSP00000321195:L1078V|.	L|P	+|+	1|2	0|0	ATP11B|ATP11B	184099168|184099168	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.997000|0.997000	0.91878|0.91878	1.668000|1.668000	0.37481|0.37481	1.331000|1.331000	0.45412|0.45412	0.585000|0.585000	0.79938|0.79938	CTC|CCT		0.403	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		15	64	0	0	0	1	0	15	64				
RALGAPB	57148	broad.mit.edu	37	20	37199427	37199427	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr20:37199427C>G	ENST00000262879.6	+	28	4363	c.4079C>G	c.(4078-4080)tCa>tGa	p.S1360*	RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.S1357*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.S1139*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.S1360*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1360	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTCCCCTCTCAGAGCTGATG	0.368																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(4078-4080)tCa>tGa		Ral GTPase activating protein, beta subunit (non-catalytic)							75.0	76.0	76.0					20																	37199427		2203	4300	6503	SO:0001587	stop_gained	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37199427C>G	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4079C>G	20.37:g.37199427C>G	ENSP00000262879:p.Ser1360*					RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.S1357*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.S1360*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.S1139*	p.S1360*			Q86X10	RLGPB_HUMAN			28	4363	+			1360			Rap-GAP.		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	ENST00000262879.6	37	c.4079C>G	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	50	16.168909	0.99856	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.54	5.54	0.83059	.	0.182670	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.4811	0.95009	0.0:1.0:0.0:0.0	.	.	.	.	X	1360;1357;1139;1360;1189	.	ENSP00000262879:S1360X	S	+	2	0	RALGAPB	36632841	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.977000	0.76141	2.580000	0.87095	0.563000	0.77884	TCA		0.368	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		6	37	0	0	0	1	0	6	37				
SSPN	8082	broad.mit.edu	37	12	26383752	26383752	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:26383752C>T	ENST00000242729.2	+	3	652	c.475C>T	c.(475-477)Ctc>Ttc	p.L159F	RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.L56F|SSPN_ENST00000535504.1_Intron|RP11-283G6.5_ENST00000541940.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000540266.1_Missense_Mutation_p.L56F|RP11-283G6.5_ENST00000540625.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	159					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TGAGACCACACTCGACTCTTG	0.587																																						ENST00000242729.2																			0				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(475-477)Ctc>Ttc		sarcospan							125.0	109.0	115.0					12																	26383752		2203	4300	6503	SO:0001583	missense	8082				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		g.chr12:26383752C>T	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"""Kras oncogene-associated gene"""	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.475C>T	12.37:g.26383752C>T	ENSP00000242729:p.Leu159Phe					SSPN_ENST00000535504.1_Intron|RP11-283G6.5_ENST00000540625.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.L56F|SSPN_ENST00000540266.1_Missense_Mutation_p.L56F	p.L159F	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN			3	652	+	Colorectal(261;0.0847)		159					B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	c.475C>T	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210597	0.39102	.	.	ENSG00000123096	ENST00000538142;ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067	T;T;T;T	0.02369	4.32;4.32;4.32;4.32	4.7	3.79	0.43588	.	0.620104	0.16542	N	0.209886	T	0.02610	0.0079	L	0.36672	1.1	0.09310	N	1	B	0.33826	0.427	B	0.33295	0.161	T	0.42430	-0.9452	10	0.10902	T	0.67	-0.304	8.762	0.34680	0.0:0.7678:0.1525:0.0797	.	159	Q14714	SSPN_HUMAN	F	56;56;56;159;133	ENSP00000445360:L56F;ENSP00000442893:L56F;ENSP00000396087:L56F;ENSP00000242729:L159F	ENSP00000242729:L159F	L	+	1	0	SSPN	26275019	0.000000	0.05858	0.003000	0.11579	0.588000	0.36517	0.854000	0.27791	1.098000	0.41479	-0.302000	0.09304	CTC		0.587	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		6	61	0	0	0	1	0	6	61				
FAT4	79633	broad.mit.edu	37	4	126372346	126372346	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr4:126372346A>T	ENST00000394329.3	+	9	10188	c.10175A>T	c.(10174-10176)aAt>aTt	p.N3392I	FAT4_ENST00000335110.5_Missense_Mutation_p.N1690I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3392	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCACTGTAAATGTCACCGTG	0.428																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10174-10176)aAt>aTt		FAT atypical cadherin 4							185.0	176.0	179.0					4																	126372346		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372346A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10175A>T	4.37:g.126372346A>T	ENSP00000377862:p.Asn3392Ile					FAT4_ENST00000335110.5_Missense_Mutation_p.N1690I	p.N3392I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10188	+			3392			Cadherin 32.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10175A>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	10.97	1.502841	0.26949	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01685	4.69;4.69	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.36482	U	0.002578	T	0.03305	0.0096	N	0.10733	0.035	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.72747	-0.4200	10	0.15952	T	0.53	.	14.9857	0.71345	1.0:0.0:0.0:0.0	.	1690;3392;3392	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	3392;1690	ENSP00000377862:N3392I;ENSP00000335169:N1690I	ENSP00000335169:N1690I	N	+	2	0	FAT4	126591796	1.000000	0.71417	0.688000	0.30117	0.993000	0.82548	9.149000	0.94659	1.939000	0.56221	0.459000	0.35465	AAT		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		13	174	0	0	0	1	0	13	174				
PCLO	27445	broad.mit.edu	37	7	82784795	82784795	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr7:82784795G>A	ENST00000333891.9	-	2	1499	c.1162C>T	c.(1162-1164)Cca>Tca	p.P388S	PCLO_ENST00000423517.2_Missense_Mutation_p.P388S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAAGCCTTTGGCCCAGGCTGC	0.597																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1162-1164)Cca>Tca		piccolo presynaptic cytomatrix protein							66.0	66.0	66.0					7																	82784795		1974	4158	6132	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784795G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1162C>T	7.37:g.82784795G>A	ENSP00000334319:p.Pro388Ser					PCLO_ENST00000333891.8_Missense_Mutation_p.P388S	p.P388S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1499	-			341			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1162C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	0.446	-0.896267	0.02472	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15256	2.44;2.44	3.75	1.9	0.25705	.	.	.	.	.	T	0.16471	0.0396	L	0.49350	1.555	0.18873	N	0.999988	B;B	0.14805	0.011;0.011	B;B	0.12156	0.007;0.007	T	0.22034	-1.0228	9	0.87932	D	0	.	8.3175	0.32108	0.2056:0.0:0.7944:0.0	.	388;388	Q9Y6V0-5;Q9Y6V0-6	.;.	S	388	ENSP00000334319:P388S;ENSP00000388393:P388S	ENSP00000334319:P388S	P	-	1	0	PCLO	82622731	0.997000	0.39634	0.005000	0.12908	0.518000	0.34316	1.418000	0.34782	0.556000	0.29098	0.655000	0.94253	CCA		0.597	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	60	0	0	0	1	0	11	60				
GRIA1	2890	broad.mit.edu	37	5	153026600	153026600	+	Silent	SNP	G	G	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr5:153026600G>A	ENST00000285900.5	+	3	676	c.333G>A	c.(331-333)ccG>ccA	p.P111P	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Silent_p.P111P|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.P42P|GRIA1_ENST00000518783.1_Silent_p.P121P|GRIA1_ENST00000448073.4_Silent_p.P121P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	111					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCATTACGCCGAGCTTTCCCG	0.493																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(331-333)ccG>ccA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						172.0	157.0	162.0					5																	153026600		2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153026600G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.333G>A	5.37:g.153026600G>A						GRIA1_ENST00000518783.1_Silent_p.P121P|GRIA1_ENST00000340592.5_Silent_p.P111P|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Silent_p.P121P|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.P42P	p.P111P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	676	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	111					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.333G>A	CCDS4322.1																																																																																				0.493	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			29	93	0	0	0	1	0	29	93				
GRIP1	23426	broad.mit.edu	37	12	66788001	66788001	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr12:66788001C>G	ENST00000398016.3	-	16	2028	c.1960G>C	c.(1960-1962)Gga>Cga	p.G654R	GRIP1_ENST00000359742.4_Missense_Mutation_p.G706R|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000286445.7_Missense_Mutation_p.G706R	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCAGCTAATCCCCCTTTAGTG	0.453																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2116-2118)Gga>Cga		glutamate receptor interacting protein 1							126.0	123.0	124.0					12																	66788001		1835	4084	5919	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66788001C>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1960G>C	12.37:g.66788001C>G	ENSP00000381098:p.Gly654Arg					GRIP1_ENST00000398016.3_Missense_Mutation_p.G654R|GRIP1_ENST00000286445.7_Missense_Mutation_p.G706R	p.G706R			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	17	2356	-			706			PDZ 6.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2116G>C	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342069	0.81911	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	4.2	4.2	0.49525	PDZ/DHR/GLGF (4);	0.219157	0.46758	D	0.000279	T	0.77974	0.4211	H	0.98048	4.135	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;1.0;0.998	D;D;D;D	0.85130	0.933;0.992;0.997;0.97	D	0.86988	0.2108	9	.	.	.	-16.5935	17.8456	0.88729	0.0:1.0:0.0:0.0	.	654;706;654;706	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	R	654;706;706;654;598;546	ENSP00000381098:G654R;ENSP00000352780:G706R;ENSP00000286445:G706R;ENSP00000446047:G654R;ENSP00000446024:G598R;ENSP00000446011:G546R	.	G	-	1	0	GRIP1	65074268	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.609000	0.82925	2.644000	0.89710	0.655000	0.94253	GGA		0.453	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			10	173	0	0	0	1	0	10	173				
GRM7	2917	broad.mit.edu	37	3	7348235	7348235	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr3:7348235G>C	ENST00000357716.4	+	4	1203	c.929G>C	c.(928-930)tGg>tCg	p.W310S	GRM7_ENST00000486284.1_Missense_Mutation_p.W310S|GRM7_ENST00000389336.4_Missense_Mutation_p.W310S|GRM7_ENST00000403881.1_Missense_Mutation_p.W310S|GRM7_ENST00000402647.2_Missense_Mutation_p.W310S	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	310					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CATTTTCTTTGGGTGGGATCA	0.483																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(928-930)tGg>tCg		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						89.0	92.0	91.0					3																	7348235		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7348235G>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.929G>C	3.37:g.7348235G>C	ENSP00000350348:p.Trp310Ser					GRM7_ENST00000402647.2_Missense_Mutation_p.W310S|GRM7_ENST00000357716.4_Missense_Mutation_p.W310S|GRM7_ENST00000403881.1_Missense_Mutation_p.W310S|GRM7_ENST00000389336.4_Missense_Mutation_p.W310S	p.W310S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			4	1203	+			310					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.929G>C	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705859	0.89018	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.65	5.65	0.86999	Extracellular ligand-binding receptor (1);	0.200264	0.47093	D	0.000260	D	0.94873	0.8343	H	0.95151	3.63	0.80722	D	1	D;D;D	0.61697	0.987;0.99;0.97	P;P;D	0.71184	0.775;0.856;0.972	D	0.95756	0.8796	10	0.87932	D	0	.	18.7028	0.91627	0.0:0.0:1.0:0.0	.	310;310;310	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	S	102;310;310;310;310;310;310;310	ENSP00000393799:W102S;ENSP00000350348:W310S;ENSP00000417536:W310S;ENSP00000373987:W310S;ENSP00000385664:W310S;ENSP00000384585:W310S	ENSP00000350348:W310S	W	+	2	0	GRM7	7323235	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.721000	0.98766	2.843000	0.97960	0.585000	0.79938	TGG		0.483	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		16	70	0	0	0	1	0	16	70				
AKAP2	11217	broad.mit.edu	37	9	112899957	112899957	+	Silent	SNP	G	G	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr9:112899957G>C	ENST00000259318.7	+	2	1647	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	AKAP2_ENST00000510514.5_Silent_p.V711V|AKAP2_ENST00000555236.1_Silent_p.V711V|AKAP2_ENST00000374525.1_Silent_p.V569V|AKAP2_ENST00000434623.2_Silent_p.V569V|PALM2-AKAP2_ENST00000302798.7_Silent_p.V711V|PALM2-AKAP2_ENST00000374530.3_Silent_p.V711V	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	480										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AATTGTCGGTGAGGTCTCAGG	0.498																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2131-2133)gtG>gtC									106.0	105.0	105.0					9																	112899957		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112899957G>C	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1440G>C	9.37:g.112899957G>C						AKAP2_ENST00000374525.1_Silent_p.V569V|AKAP2_ENST00000259318.7_Silent_p.V480V|AKAP2_ENST00000555236.1_Silent_p.V711V|PALM2-AKAP2_ENST00000302798.7_Silent_p.V711V|AKAP2_ENST00000510514.5_Silent_p.V711V|AKAP2_ENST00000434623.2_Silent_p.V569V	p.V711V	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2313	+			480					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.2133G>C	CCDS48003.1																																																																																				0.498	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		10	139	0	0	0	1	0	10	139				
SEC24D	9871	broad.mit.edu	37	4	119745869	119745869	+	Missense_Mutation	SNP	C	C	T	rs370196904		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr4:119745869C>T	ENST00000280551.6	-	3	392	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	SEC24D_ENST00000379735.5_Missense_Mutation_p.A52T|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	52	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCCCTAGTGGCGGTGGCCCCC	0.542																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(154-156)Gcc>Acc		SEC24 family member D							88.0	97.0	94.0					4																	119745869		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119745869C>T	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.154G>A	4.37:g.119745869C>T	ENSP00000280551:p.Ala52Thr					SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.A52T	p.A52T	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			3	425	-			52			Pro-rich.		Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.154G>A	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753001	0.15778	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000503683	T;T;T	0.76578	-1.03;-1.03;0.38	5.39	0.605	0.17553	.	0.511140	0.20764	N	0.086108	T	0.57036	0.2026	L	0.27053	0.805	0.09310	N	0.999995	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.0	T	0.33394	-0.9870	10	0.13108	T	0.6	-1.325	5.3306	0.15930	0.0:0.554:0.1401:0.3058	.	52;52	O94855-2;O94855	.;SC24D_HUMAN	T	52	ENSP00000280551:A52T;ENSP00000369059:A52T;ENSP00000426309:A52T	ENSP00000280551:A52T	A	-	1	0	SEC24D	119965317	0.012000	0.17670	0.000000	0.03702	0.004000	0.04260	0.127000	0.15790	-0.230000	0.09840	0.557000	0.71058	GCC		0.542	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			13	121	0	0	0	1	0	13	121				
KNOP1	400506	broad.mit.edu	37	16	19726274	19726274	+	Silent	SNP	T	T	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:19726274T>C	ENST00000219837.7	-	2	162	c.84A>G	c.(82-84)cgA>cgG	p.R28R	IQCK_ENST00000320394.6_5'Flank|AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	28			R -> Q (in dbSNP:rs11640454).			nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										AAACTGAGTATCGAGTCTCTG	0.433																																						ENST00000219837.7																			0											c.(82-84)cgA>cgG		lysine-rich nucleolar protein 1							91.0	88.0	89.0					16																	19726274		1874	4101	5975	SO:0001819	synonymous_variant	400506							g.chr16:19726274T>C	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.84A>G	16.37:g.19726274T>C						AC002550.5_ENST00000565916.1_RNA	p.R28R	NM_001012991.2	NP_001013009.2					2	162	-								O43328|Q5FWF3	Silent	SNP	ENST00000219837.7	37	c.84A>G	CCDS42127.1																																																																																				0.433	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		11	104	0	0	0	1	0	11	104				
TMC3	342125	broad.mit.edu	37	15	81660621	81660621	+	Silent	SNP	G	G	C			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr15:81660621G>C	ENST00000359440.5	-	3	420	c.285C>G	c.(283-285)acC>acG	p.T95T	TMC3_ENST00000558726.1_Silent_p.T95T	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGTAGCCTCGGGTCCTGGTCA	0.498																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(283-285)acC>acG		transmembrane channel-like 3							179.0	179.0	179.0					15																	81660621		2012	4180	6192	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81660621G>C	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.285C>G	15.37:g.81660621G>C						TMC3_ENST00000359440.5_Silent_p.T95T	p.T95T			Q7Z5M5	TMC3_HUMAN			3	420	-			95						Silent	SNP	ENST00000359440.5	37	c.285C>G	CCDS45324.1																																																																																				0.498	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		13	117	0	0	0	1	0	13	117				
ZNF608	57507	broad.mit.edu	37	5	123982927	123982927	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr5:123982927C>A	ENST00000306315.5	-	4	3585	c.3150G>T	c.(3148-3150)aaG>aaT	p.K1050N	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Missense_Mutation_p.K623N	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1050							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGTCCACTTTCTTAGAATCTA	0.478																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3148-3150)aaG>aaT		zinc finger protein 608							120.0	110.0	114.0					5																	123982927		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123982927C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3150G>T	5.37:g.123982927C>A	ENSP00000307746:p.Lys1050Asn					ZNF608_ENST00000504926.1_Missense_Mutation_p.K623N	p.K1050N	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3585	-		all_cancers(142;0.186)|Prostate(80;0.081)	1050					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3150G>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983136	0.53827	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.55588	0.52;0.51	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.66939	2.045	0.48395	D	0.999646	D	0.67145	0.996	P	0.59889	0.865	T	0.68123	-0.5492	10	0.59425	D	0.04	-26.7896	14.363	0.66785	0.0:0.9297:0.0:0.0703	.	1050	Q9ULD9	ZN608_HUMAN	N	623;1050	ENSP00000427657:K623N;ENSP00000307746:K1050N	ENSP00000307746:K1050N	K	-	3	2	ZNF608	124010826	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.471000	0.35365	2.773000	0.95371	0.643000	0.83706	AAG		0.478	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		27	62	1	0	2.48779e-11	1	2.86096e-11	27	62				
CEP192	55125	broad.mit.edu	37	18	13056171	13056171	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr18:13056171T>G	ENST00000325971.8	+	17	3387	c.1794T>G	c.(1792-1794)gaT>gaG	p.D598E	CEP192_ENST00000506447.1_Missense_Mutation_p.D1194E|CEP192_ENST00000430049.2_Missense_Mutation_p.D719E			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	598					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGCCTATAGATGAAGATCAAA	0.517																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3580-3582)gaT>gaG		centrosomal protein 192kDa							69.0	70.0	70.0					18																	13056171		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13056171T>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1794T>G	18.37:g.13056171T>G	ENSP00000317156:p.Asp598Glu					CEP192_ENST00000430049.2_Missense_Mutation_p.D719E|CEP192_ENST00000325971.8_Missense_Mutation_p.D598E	p.D1194E	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	3662	+			789					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.3582T>G		.	.	.	.	.	.	.	.	.	.	T	7.689	0.690645	0.15039	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.19806	2.12;2.12;2.12	5.01	-6.6	0.01824	.	1.865810	0.02935	N	0.139686	T	0.10035	0.0246	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.002;0.003;0.005	T	0.21930	-1.0231	10	0.13853	T	0.58	5.8943	1.4274	0.02326	0.2175:0.2307:0.1076:0.4441	.	719;1194;598	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	E	1194;598;598;719	ENSP00000427550:D1194E;ENSP00000317156:D598E;ENSP00000389190:D719E	ENSP00000317156:D598E	D	+	3	2	CEP192	13046171	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.235000	0.01202	-1.429000	0.01987	-0.468000	0.05107	GAT		0.517	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		5	54	0	0	0	1	0	5	54				
GGCX	2677	broad.mit.edu	37	2	85778056	85778056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr2:85778056delT	ENST00000233838.4	-	13	1960	c.1880delA	c.(1879-1881)aatfs	p.N627fs	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Frame_Shift_Del_p.N570fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	627					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	ACCACTTCCATTCTCCACCTT	0.433																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1879-1881)atfs		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						232.0	217.0	222.0					2																	85778056		2203	4300	6503	SO:0001589	frameshift_variant	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85778056delT		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1880delA	2.37:g.85778056delT	ENSP00000233838:p.Asn627fs					GGCX_ENST00000430215.3_Frame_Shift_Del_p.N570fs	p.N627fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			13	1960	-			627					B4DMC5|E9PEE1|Q14415|Q6GU45	Frame_Shift_Del	DEL	ENST00000233838.4	37	c.1880delA	CCDS1978.1																																																																																				0.433	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		13	114						13	114	---	---	---	---
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																						ENST00000372836.4																			1	Deletion - In frame(1)	p.L25delL(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(49-54)ttg>t		canopy FGF signaling regulator 3																																				SO:0001651	inframe_deletion	10695				innate immune response	endoplasmic reticulum		g.chr6:42897358_42897360delTGC	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del					CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del	p.LL23del	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		1	421_423	+	Colorectal(47;0.196)		23					O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	ENST00000372836.4	37	c.50_52delTGC	CCDS4875.1																																																																																				0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		2	4						2	4	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79984283	79984283	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr9:79984283delA	ENST00000360280.3	+	63	8882	c.8622delA	c.(8620-8622)agafs	p.R2874fs	VPS13A_ENST00000376636.3_Frame_Shift_Del_p.R2835fs|VPS13A_ENST00000376634.4_Frame_Shift_Del_p.R2874fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.R2874fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2874					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTTAATTAGAGAATTTTCTG	0.294																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8620-8622)agfs		vacuolar protein sorting 13 homolog A (S. cerevisiae)							166.0	168.0	167.0					9																	79984283		2203	4300	6503	SO:0001589	frameshift_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79984283delA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8622delA	9.37:g.79984283delA	ENSP00000353422:p.Arg2874fs					VPS13A_ENST00000376634.4_Frame_Shift_Del_p.R2874fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.R2835fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.R2874fs	p.R2874fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			63	8882	+			2874					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	ENST00000360280.3	37	c.8622delA	CCDS6655.1																																																																																				0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		7	113						7	113	---	---	---	---
SPRY2	10253	broad.mit.edu	37	13	80911675	80911676	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr13:80911675_80911676insGA	ENST00000377102.1	-	2	1142_1143	c.165_166insTC	c.(163-168)tacacafs	p.T56fs	SPRY2_ENST00000540649.1_Frame_Shift_Ins_p.T56fs|SPRY2_ENST00000377104.3_Frame_Shift_Ins_p.T56fs			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	56					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GGCCCCTCTGTGTACTCATTGG	0.609																																						ENST00000377102.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12						c.(163-168)tacagafs		sprouty homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911675_80911676insGA	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.165_166insTC	13.37:g.80911675_80911676insGA	ENSP00000366306:p.Thr56fs					SPRY2_ENST00000377104.3_Frame_Shift_Ins_p.R56fs|SPRY2_ENST00000540649.1_Frame_Shift_Ins_p.R56fs	p.R56fs			O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1142_1143	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	56					B2R9J9|Q5T6Z7	Frame_Shift_Ins	INS	ENST00000377102.1	37	c.165_166insTC	CCDS9463.1																																																																																				0.609	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			22	90						22	90	---	---	---	---
GCH1	2643	broad.mit.edu	37	14	55369235	55369235	+	Frame_Shift_Del	DEL	G	G	-	rs377631489		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr14:55369235delG	ENST00000491895.2	-	1	335	c.147delC	c.(145-147)cccfs	p.P49fs	GCH1_ENST00000395514.1_Frame_Shift_Del_p.P49fs|GCH1_ENST00000536224.2_Frame_Shift_Del_p.P49fs|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000543643.2_Frame_Shift_Del_p.P49fs	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	49					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						AGCCGTCCGCGGGCTGCGCGC	0.736																																					Pancreas(198;1245 2204 4807 21567 38372)	ENST00000491895.2																			0				endometrium(2)|lung(7)|skin(2)	11						c.(145-147)ccfs		GTP cyclohydrolase 1							12.0	10.0	11.0					14																	55369235		2184	4283	6467	SO:0001589	frameshift_variant	2643				dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	g.chr14:55369235delG	U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"""dopa-responsive dystonia"""	600225	"""dystonia 14"""	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.147delC	14.37:g.55369235delG	ENSP00000419045:p.Pro49fs					GCH1_ENST00000395514.1_Frame_Shift_Del_p.P49fs|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Frame_Shift_Del_p.P49fs|GCH1_ENST00000543643.2_Frame_Shift_Del_p.P49fs	p.P49fs	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN			1	335	-			49					Q6FHY7|Q9Y4I8	Frame_Shift_Del	DEL	ENST00000491895.2	37	c.147delC	CCDS9720.1																																																																																				0.736	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276895.3			2	4						2	4	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308		TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:32077916_32077917insTTT	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		ATGGAAAACGGTTATTTTTTTG	0.421																																						ENST00000566806.1																			0																																																			0							g.chr16:32077916_32077917insTTT	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077916_32077917insTTT														0	499	-									RNA	INS	ENST00000354689.6	37																																																																																						0.421	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			4	6						4	6	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183628	+	RNA	DEL	TTTT	TTTT	-	rs537660277|rs5818322|rs10617579	byFrequency	TCGA-CQ-A4CA-01A-11D-A25D-08	TCGA-CQ-A4CA-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abdc40a-bb7d-4bb0-a2e4-df796caea7e5	17fbe3a3-6001-42f9-af9c-9427f8a4ae42	g.chr16:81183625_81183628delTTTT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACtttttttttttttt	0.466																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183625_81183628delTTTT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183633_81183636delTTTT						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	2609	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.466	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			2	4						2	4	---	---	---	---
